{ "url": "https://dantelabs.com/fr/genes/fgfr2", "gene": { "slug": "fgfr2", "symbol": "FGFR2", "name": "fibroblast growth factor receptor 2", "hgnc": "HGNC:3689", "summary": null, "location": "10q26.13", "locusType": "gene with protein product", "aliases": [ "CEK3", "TK14", "TK25", "ECT1", "K-SAM", "CD332" ], "previousSymbols": [ "KGFR", "BEK", "CFD1", "JWS" ], "ensemblId": "ENSG00000066468", "entrezId": 2263, "omim": [ "176943" ], "uniprot": [ "P21802" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "10", "start": 121478332, "end": 121598444, "strand": "-", "ensemblTranscript": "ENST00000358487.10", "refseqTranscript": "NM_000141.5", "ensemblProtein": "ENSP00000351276.6", "refseqProtein": "NP_000132.3", "exons": [ { "start": 121478332, "end": 121480021 }, { "start": 121483698, "end": 121483803 }, { "start": 121485395, "end": 121485532 }, { "start": 121487354, "end": 121487424 }, { "start": 121487991, "end": 121488113 }, { "start": 121496532, "end": 121496722 }, { "start": 121498495, "end": 121498605 }, { "start": 121500826, "end": 121500947 }, { "start": 121503790, "end": 121503941 }, { "start": 121515117, "end": 121515319 }, { "start": 121517319, "end": 121517463 }, { "start": 121519979, "end": 121520169 }, { "start": 121538592, "end": 121538715 }, { "start": 121551290, "end": 121551459 }, { "start": 121564502, "end": 121564579 }, { "start": 121565438, "end": 121565704 }, { "start": 121593709, "end": 121593967 }, { "start": 121597962, "end": 121598444 } ], "cds": { "start": 121479857, "end": 121593817 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "10", "start": 123237848, "end": 123357972, "strand": "-" }, "neighbourhood": { "release": "116", "start": 121038388, "end": 122038387, "genes": [ { "symbol": "ATE1", "ensemblId": "ENSG00000107669", "biotype": "protein_coding", "start": 121709393, "end": 121928801, "strand": "-", "slug": "ate1" }, { "symbol": "NSMCE4A", "ensemblId": "ENSG00000107672", "biotype": "protein_coding", "start": 121953334, "end": 121975300, "strand": "-", "slug": "nsmce4a" }, { "symbol": "TACC2", "ensemblId": "ENSG00000138162", "biotype": "protein_coding", "start": 121989163, "end": 122254560, "strand": "+", "slug": "tacc2" } ], "truncated": false }, "reports": [ { "slug": "syndromic-craniosynostosis", "name": "Craniosténose syndromique", "diseases": [ { "mondoId": "MONDO:0015338", "name": "Craniosténose syndromique", "genes": 23, "inheritance": null, "description": "Maladies associant une fermeture précoce des sutures crâniennes à d'autres signes, notamment les syndromes d'Apert, de Crouzon, de Pfeiffer, de Muenke et de Saethre-Chotzen, causées par des gènes tels que FGFR2, FGFR3, FGFR1, TWIST1, TCF12 et ERF.", "management": "Un diagnostic précoce permet une chirurgie au bon moment et un suivi de la croissance du crâne, de la vision et de l'audition ; les formes plus légères, comme le syndrome de Muenke, peuvent passer inaperçues chez l'adulte, ce qui est important pour la planification familiale.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/syndromic-craniosynostosis" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "3-4-toe-cutaneous-syndactyly", "name": "3-4 toe cutaneous syndactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/3-4-toe-cutaneous-syndactyly" }, { "slug": "abnormal-antihelix-morphology", "name": "Abnormal antihelix morphology", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-antihelix-morphology" }, { "slug": "ectopic-anus", "name": "Abnormal anus position", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ectopic-anus" }, { "slug": "abnormal-cardiovascular-system-morphology", "name": "Abnormal cardiovascular system morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology" }, { "slug": "abnormality-of-the-cervical-spine", "name": "Abnormal cervical spine", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/abnormality-of-the-cervical-spine" }, { "slug": "abnormality-of-the-dentition", "name": "Abnormal dentition", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-dentition" }, { "slug": "abnormal-facial-shape", "name": "Abnormal facial shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-facial-shape" }, { "slug": "abnormal-hair-pattern", "name": "Abnormal hair pattern", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-hair-pattern" }, { "slug": "abnormal-lacrimal-duct-morphology", "name": "Abnormal lacrimal duct morphology", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-lacrimal-duct-morphology" }, { "slug": "abnormal-lacrimal-gland-morphology", "name": "Abnormal lacrimal gland morphology", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-lacrimal-gland-morphology" }, { "slug": "abnormal-morphology-of-the-limbic-system", "name": "Abnormal morphology of the limbic system", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-morphology-of-the-limbic-system" }, { "slug": "abnormal-nasolacrimal-system-morphology", "name": "Abnormal nasolacrimal system morphology", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/abnormal-nasolacrimal-system-morphology" }, { "slug": "abnormal-periosteum-morphology", "name": "Abnormal periosteum morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-periosteum-morphology" }, { "slug": "abnormal-sacrum-morphology", "name": "Abnormal sacrum morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-sacrum-morphology" }, { "slug": "abnormal-semicircular-canal-morphology", "name": "Abnormal semicircular canal morphology", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-semicircular-canal-morphology" }, { "slug": "abnormal-pelvic-girdle-bone-morphology", "name": "Abnormal shape of pelvic girdle bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/abnormal-pelvic-girdle-bone-morphology" }, { "slug": "deviation-of-the-thumb", "name": "Abnormal thumb placement", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/deviation-of-the-thumb" }, { "slug": "abnormal-dental-enamel-morphology", "name": "Abnormal tooth enamel", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-dental-enamel-morphology" }, { "slug": "abnormal-vertebral-body-morphology", "name": "Abnormal vertebral body morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology" }, { "slug": "abnormal-digit-morphology", "name": "Abnormality of fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-digit-morphology" }, { "slug": "abnormal-fibula-morphology", "name": "Abnormality of the calf bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-fibula-morphology" }, { "slug": "abnormality-of-the-eye", "name": "Abnormality of the eye", "systems": [], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-eye" }, { "slug": "abnormality-of-the-face", "name": "Abnormality of the face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-face" }, { "slug": "abnormality-of-the-genitourinary-system", "name": "Abnormality of the genitourinary system", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system" }, { "slug": "abnormal-heart-morphology", "name": "Abnormality of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-heart-morphology" }, { "slug": "abnormality-of-the-lower-limb", "name": "Abnormality of the lower limb", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-lower-limb" }, { "slug": "abnormal-nail-morphology", "name": "Abnormality of the nail", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-nail-morphology" }, { "slug": "abnormality-of-the-outer-ear", "name": "Abnormality of the outer ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-outer-ear" }, { "slug": "abnormal-palate-morphology", "name": "Abnormality of the palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-palate-morphology" }, { "slug": "abnormality-of-the-pancreas", "name": "Abnormality of the pancreas", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-pancreas" }, { "slug": "abnormal-salivary-gland-morphology", "name": "Abnormality of the salivary glands", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-salivary-gland-morphology" }, { "slug": "abnormal-skull-morphology", "name": "Abnormality of the skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-skull-morphology" }, { "slug": "abnormal-thumb-morphology", "name": "Abnormality of the thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-thumb-morphology" }, { "slug": "abnormality-of-vision", "name": "Abnormality of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-vision" }, { "slug": "hypotelorism", "name": "Abnormally close eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypotelorism" }, { "slug": "vaginal-atresia", "name": "Abnormally closed or absent vagina", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/vaginal-atresia" }, { "slug": "abnormal-pinna-morphology", "name": "Abnormally shaped ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-pinna-morphology" }, { "slug": "abnormal-renal-morphology", "name": "Abnormally shaped kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/abnormal-renal-morphology" }, { "slug": "absence-of-stensen-duct", "name": "Absence of Stensen duct", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/absence-of-stensen-duct" }, { "slug": "alacrima", "name": "Absence of tears in the eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/alacrima" }, { "slug": "absent-first-metatarsal", "name": "Absent 1st long bone of foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/absent-first-metatarsal" }, { "slug": "anal-atresia", "name": "Absent anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anal-atresia" }, { "slug": "atresia-of-the-external-auditory-canal", "name": "Absent ear canal", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/atresia-of-the-external-auditory-canal" }, { "slug": "absent-proximal-phalanx-of-thumb", "name": "Absent innermost thumb bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/absent-proximal-phalanx-of-thumb" }, { "slug": "renal-agenesis", "name": "Absent kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/renal-agenesis" }, { "slug": "absent-lacrimal-punctum", "name": "Absent lacrimal punctum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-lacrimal-punctum" }, { "slug": "absent-septum-pellucidum", "name": "Absent septum pellucidum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-septum-pellucidum" }, { "slug": "lacrimal-duct-aplasia", "name": "Absent tear duct", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lacrimal-duct-aplasia" }, { "slug": "lacrimal-gland-aplasia", "name": "Absent tear gland", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lacrimal-gland-aplasia" }, { "slug": "absent-thumb", "name": "Absent thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-thumb" }, { "slug": "aplasia-hypoplasia-of-the-earlobes", "name": "Absent/small ear lobes", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-earlobes" }, { "slug": "aplasia-hypoplasia-of-the-thumb", "name": "Absent/small thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-thumb" }, { "slug": "acne", "name": "Acne", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/acne" }, { "slug": "acrobrachycephaly", "name": "Acrobrachycephaly", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/acrobrachycephaly" }, { "slug": "agenesis-of-corpus-callosum", "name": "Agenesis of corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum" }, { "slug": "atrial-septal-defect", "name": "An opening in the wall separating the top two chambers of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "anisometropia", "name": "Anisometropia", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anisometropia" }, { "slug": "anomalous-tracheal-cartilage", "name": "Anomalous tracheal cartilage", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/anomalous-tracheal-cartilage" }, { "slug": "anteriorly-placed-anus", "name": "Anteriorly placed anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anteriorly-placed-anus" }, { "slug": "aplasia-of-the-parotid-gland", "name": "Aplasia of the parotid gland", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/aplasia-of-the-parotid-gland" }, { "slug": "aqueductal-stenosis", "name": "Aqueductal stenosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/aqueductal-stenosis" }, { "slug": "arthritis", "name": "Arthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/arthritis" }, { "slug": "plagiocephaly", "name": "Asymmetry of the posterior head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/plagiocephaly" }, { "slug": "nail-dysplasia", "name": "Atypical nail growth", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/nail-dysplasia" }, { "slug": "dental-malocclusion", "name": "Bad bite", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dental-malocclusion" }, { "slug": "convex-nasal-ridge", "name": "Beaked nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/convex-nasal-ridge" }, { "slug": "melanocytic-nevus", "name": "Beauty mark", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/melanocytic-nevus" }, { "slug": "bell-shaped-thorax", "name": "Bell-shaped thorax", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bell-shaped-thorax" }, { "slug": "bent-long-bone", "name": "Bent long bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bent-long-bone" }, { "slug": "bicoronal-synostosis", "name": "Bicoronal synostosis", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bicoronal-synostosis" }, { "slug": "bifid-uvula", "name": "Bifid uvula", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bifid-uvula" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "mandibular-prognathia", "name": "Big lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "bilateral-single-transverse-palmar-creases", "name": "Bilateral single transverse palmar creases", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-single-transverse-palmar-creases" }, { "slug": "bilateral-triphalangeal-thumbs", "name": "Bilateral triphalangeal thumbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/bilateral-triphalangeal-thumbs" }, { "slug": "esophageal-atresia", "name": "Birth defect in which part of esophagus did not develop", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/esophageal-atresia" }, { "slug": "choanal-atresia", "name": "Blockage of the rear opening of the nasal cavity", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/choanal-atresia" }, { "slug": "nasolacrimal-duct-obstruction", "name": "Blocked tear duct", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/nasolacrimal-duct-obstruction" }, { "slug": "natal-tooth", "name": "Born with teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/natal-tooth" }, { "slug": "bowing-of-the-legs", "name": "Bowed legs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bowing-of-the-legs" }, { "slug": "femoral-bowing", "name": "Bowed thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/femoral-bowing" }, { "slug": "breast-carcinoma", "name": "Breast cancer", "systems": [ "abnormality-of-the-breast", "neoplasm" ], "url": "https://dantelabs.com/traits/breast-carcinoma" }, { "slug": "breath-holding-spell", "name": "Breath-holding spell", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/breath-holding-spell" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "broad-hallux", "name": "Broad big toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/broad-hallux" }, { "slug": "broad-hallux-phalanx", "name": "Broad bone of big toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/broad-hallux-phalanx" }, { "slug": "broad-distal-hallux", "name": "Broad distal hallux", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/broad-distal-hallux" }, { "slug": "broad-forehead", "name": "Broad forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/broad-forehead" }, { "slug": "brachycephaly", "name": "Broad head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/brachycephaly" }, { "slug": "broad-proximal-phalanx-of-the-hallux", "name": "Broad innermost bone of the big toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-proximal-phalanx-of-the-hallux" }, { "slug": "broad-distal-phalanx-of-the-hallux", "name": "Broad outermost bone of big toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-distal-phalanx-of-the-hallux" }, { "slug": "broad-distal-phalanx-of-the-thumb", "name": "Broad outermost bone of the thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/broad-distal-phalanx-of-the-thumb" }, { "slug": "broad-thumb", "name": "Broad thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/broad-thumb" }, { "slug": "broad-toe", "name": "Broad toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/broad-toe" }, { "slug": "bronchomalacia", "name": "Bronchomalacia", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/bronchomalacia" }, { "slug": "proptosis", "name": "Bulging eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proptosis" }, { "slug": "hallux-valgus", "name": "Bunion", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hallux-valgus" }, { "slug": "calcaneonavicular-fusion", "name": "Calcaneonavicular fusion", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/calcaneonavicular-fusion" }, { "slug": "iris-coloboma", "name": "Cat eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/iris-coloboma" }, { "slug": "cervical-c5-c6-vertebrae-fusion", "name": "Cervical C5/C6 vertebrae fusion", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cervical-c5-c6-vertebrae-fusion" }, { "slug": "cervical-c6-c7-vertebrae-fusion", "name": "Cervical C6/C7 vertebrae fusion", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/cervical-c6-c7-vertebrae-fusion" }, { "slug": "hypoplasia-of-the-zygomatic-bone", "name": "Cheekbone underdevelopment", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-zygomatic-bone" }, { "slug": "chiari-malformation", "name": "Chiari malformation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chiari-malformation" }, { "slug": "chiari-type-i-malformation", "name": "Chiari type I malformation", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/chiari-type-i-malformation" }, { "slug": "chronic-otitis-media", "name": "Chronic infections of the middle ear", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-otitis-media" }, { "slug": "cleft-of-chin", "name": "Cleft of chin", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/cleft-of-chin" }, { "slug": "bifid-scrotum", "name": "Cleft of scrotum", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bifid-scrotum" }, { "slug": "orofacial-cleft", "name": "Cleft of the mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/orofacial-cleft" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "cloverleaf-skull", "name": "Cloverleaf cranium shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cloverleaf-skull" }, { "slug": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "conical-incisor", "name": "Cone shaped front tooth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/conical-incisor" }, { "slug": "keratitis", "name": "Corneal inflammation", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/keratitis" }, { "slug": "corneal-perforation", "name": "Corneal perforation", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/corneal-perforation" }, { "slug": "corneal-ulceration", "name": "Corneal ulceration", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/corneal-ulceration" }, { "slug": "telecanthus", "name": "Corners of eye widely separated", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/telecanthus" }, { "slug": "coronal-craniosynostosis", "name": "Coronal craniosynostosis", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/coronal-craniosynostosis" }, { "slug": "coronal-hypospadias", "name": "Coronal hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/coronal-hypospadias" }, { "slug": "craniofacial-dysostosis", "name": "Craniofacial dysostosis", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/craniofacial-dysostosis" }, { "slug": "infra-orbital-crease", "name": "Crease in skin under the eye", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/infra-orbital-crease" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "cupped-ear", "name": "Cupped ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cupped-ear" }, { "slug": "clinodactyly", "name": "Curvature of digit", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clinodactyly" }, { "slug": "clinodactyly-of-the-5th-finger", "name": "Curvature of little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger" }, { "slug": "ulnar-bowing", "name": "Curving of inner forearm bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/ulnar-bowing" }, { "slug": "cutaneous-syndactyly", "name": "Cutaneous syndactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cutaneous-syndactyly" }, { "slug": "dacryocystitis", "name": "Dacryocystitis", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/dacryocystitis" }, { "slug": "corneal-erosion", "name": "Damage to outer layer of the cornea of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/corneal-erosion" }, { "slug": "acanthosis-nigricans", "name": "Darkened and thickened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/acanthosis-nigricans" }, { "slug": "decreased-corneal-sensation", "name": "Decreased corneal sensation", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-corneal-sensation" }, { "slug": "shallow-orbits", "name": "Decreased depth of eye sockets", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-eye", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/shallow-orbits" }, { "slug": "tooth-agenesis", "name": "Decreased number of teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/tooth-agenesis" }, { "slug": "xerostomia", "name": "Decreased salivary flow", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/xerostomia" }, { "slug": "hypoplasia-of-the-maxilla", "name": "Decreased size of maxilla", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla" }, { "slug": "microdontia", "name": "Decreased size of tooth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microdontia" }, { "slug": "craniosynostosis", "name": "Deformity of the skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/craniosynostosis" }, { "slug": "delayed-cranial-suture-closure", "name": "Delayed cranial suture closure", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-cranial-suture-closure" }, { "slug": "delayed-eruption-of-primary-teeth", "name": "Delayed eruption of baby teeth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/delayed-eruption-of-primary-teeth" }, { "slug": "delayed-eruption-of-teeth", "name": "Delayed eruption of teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth" }, { "slug": "delayed-epiphyseal-ossification", "name": "Delayed maturation of end part of long bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-epiphyseal-ossification" }, { "slug": "carious-teeth", "name": "Dental cavities", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/carious-teeth" }, { "slug": "dental-crowding", "name": "Dental crowding", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dental-crowding" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "metopic-depression", "name": "Depression of frontal cranial suture", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/metopic-depression" }, { "slug": "deviated-nasal-septum", "name": "Deviated nasal septum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/deviated-nasal-septum" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "keratoconjunctivitis-sicca", "name": "Dry eye syndrome", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/keratoconjunctivitis-sicca" }, { "slug": "duplication-of-the-distal-phalanx-of-the-hallux", "name": "Duplication of the outermost bone of big toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/duplication-of-the-distal-phalanx-of-the-hallux" }, { "slug": "duplication-of-thumb-phalanx", "name": "Duplication of thumb phalanx", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/duplication-of-thumb-phalanx" }, { "slug": "dysgerminoma", "name": "Dysgerminoma", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "url": "https://dantelabs.com/traits/dysgerminoma" }, { "slug": "sagittal-craniosynostosis", "name": "Early closure of midline skull joint", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sagittal-craniosynostosis" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "elbow-ankylosis", "name": "Elbow ankylosis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/elbow-ankylosis" }, { "slug": "megalencephaly", "name": "Enlarged brain", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/megalencephaly" }, { "slug": "clitoral-hypertrophy", "name": "Enlarged clitoris", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/clitoral-hypertrophy" }, { "slug": "megalocornea", "name": "Enlarged cornea", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/megalocornea" }, { "slug": "buphthalmos", "name": "Enlarged eyeball", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/buphthalmos" }, { "slug": "hepatosplenomegaly", "name": "Enlarged liver and spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "hirsutism", "name": "Excessive hairiness", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hirsutism" }, { "slug": "hyperhidrosis", "name": "Excessive sweating", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperhidrosis" }, { "slug": "palmoplantar-cutis-laxa", "name": "Excessive wrinkled skin of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/palmoplantar-cutis-laxa" }, { "slug": "exodeviation", "name": "Exodeviation", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/exodeviation" }, { "slug": "postaxial-hand-polydactyly", "name": "Extra little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/postaxial-hand-polydactyly" }, { "slug": "preaxial-hand-polydactyly", "name": "Extra thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/preaxial-hand-polydactyly" }, { "slug": "extramedullary-hematopoiesis", "name": "Extramedullary hematopoiesis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/extramedullary-hematopoiesis" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "blepharospasm", "name": "Eyelid spasm", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/blepharospasm" }, { "slug": "facial-asymmetry", "name": "Facial asymmetry", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/facial-asymmetry" }, { "slug": "hypodontia", "name": "Failure of development of between one and six teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypodontia" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "finger-syndactyly", "name": "Finger syndactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/finger-syndactyly" }, { "slug": "triphalangeal-thumb", "name": "Finger-like thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/triphalangeal-thumb" }, { "slug": "subcutaneous-nodule", "name": "Firm lump under the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/subcutaneous-nodule" }, { "slug": "flat-occiput", "name": "Flat back of skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/flat-occiput" }, { "slug": "flat-face", "name": "Flat face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/flat-face" }, { "slug": "flat-forehead", "name": "Flat forehead", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/flat-forehead" }, { "slug": "underdeveloped-supraorbital-ridges", "name": "Flattened bony protrusion above eyes", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/underdeveloped-supraorbital-ridges" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "tracheomalacia", "name": "Floppy windpipe", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/tracheomalacia" }, { "slug": "arachnoid-cyst", "name": "Fluid-filled sac located in membrane surrounding brain or spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arachnoid-cyst" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "periorbital-fullness", "name": "Fullness around the eyes", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/periorbital-fullness" }, { "slug": "cutis-gyrata-of-scalp", "name": "Furrows in thickened skin on top of scalp", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cutis-gyrata-of-scalp" }, { "slug": "finger-symphalangism", "name": "Fused finger bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/finger-symphalangism" }, { "slug": "radioulnar-synostosis", "name": "Fused forearm bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/radioulnar-synostosis" }, { "slug": "fused-labia-minora", "name": "Fused inner lips", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/fused-labia-minora" }, { "slug": "toe-syndactyly", "name": "Fused toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/toe-syndactyly" }, { "slug": "humeroradial-synostosis", "name": "Fusion of upper and lower arm bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/humeroradial-synostosis" }, { "slug": "synostosis-of-carpal-bones", "name": "Fusion of wrist bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/synostosis-of-carpal-bones" }, { "slug": "glenoid-dysplasia", "name": "Glenoid dysplasia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/glenoid-dysplasia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "growth-abnormality", "name": "Growth abnormality", "systems": [], "url": "https://dantelabs.com/traits/growth-abnormality" }, { "slug": "gingival-overgrowth", "name": "Gum enlargement", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gingival-overgrowth" }, { "slug": "hallux-varus", "name": "Hallux varus", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hallux-varus" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/headache" }, { "slug": "hearing-abnormality", "name": "Hearing abnormality", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hearing-abnormality" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "bicornuate-uterus", "name": "Heart shaped uterus", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/bicornuate-uterus" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "high-forehead", "name": "High forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/high-forehead" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/polyhydramnios" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "brachyturricephaly", "name": "High, prominent forehead", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/brachyturricephaly" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "parietal-foramina", "name": "Holes in parietal bones", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/parietal-foramina" }, { "slug": "horseshoe-kidney", "name": "Horseshoe kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/horseshoe-kidney" }, { "slug": "hydronephrosis", "name": "Hydronephrosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydronephrosis" }, { "slug": "hyperextensible-skin", "name": "Hyperelastic skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/hyperextensible-skin" }, { "slug": "hypoplasia-of-the-epiglottis", "name": "Hypoplasia of the epiglottis", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypoplasia-of-the-epiglottis" }, { "slug": "hypoplasia-of-the-lacrimal-punctum", "name": "Hypoplasia of the lacrimal punctum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-lacrimal-punctum" }, { "slug": "hypoplastic-ischia", "name": "Hypoplastic ischia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoplastic-ischia" }, { "slug": "hypoplastic-pubic-bone", "name": "Hypoplastic pubic bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplastic-pubic-bone" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypospadias" }, { "slug": "incomplete-ossification-of-pubis", "name": "Incomplete maturation of the pubic bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/incomplete-ossification-of-pubis" }, { "slug": "increased-corneal-thickness", "name": "Increased corneal thickness", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/increased-corneal-thickness" }, { "slug": "increased-level-of-l-fucose-in-urine", "name": "Increased level of L-fucose in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/increased-level-of-l-fucose-in-urine" }, { "slug": "abnormally-large-globe", "name": "Increased size of eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormally-large-globe" }, { "slug": "epiphora", "name": "Increased tears", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epiphora" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "intestinal-malrotation", "name": "Intestinal malrotation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intestinal-malrotation" }, { "slug": "radial-deviation-of-the-3rd-finger", "name": "Inward turned middle finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/radial-deviation-of-the-3rd-finger" }, { "slug": "moderate-intellectual-disability", "name": "IQ between 34 and 49", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/moderate-intellectual-disability" }, { "slug": "keratoconjunctivitis", "name": "Keratoconjunctivitis", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/keratoconjunctivitis" }, { "slug": "lambdoidal-craniosynostosis", "name": "Lambdoidal craniosynostosis", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lambdoidal-craniosynostosis" }, { "slug": "macrotia", "name": "Large ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macrotia" }, { "slug": "amblyopia", "name": "Lazy eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/amblyopia" }, { "slug": "limbal-stem-cell-deficiency", "name": "Limbal stem cell deficiency", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/limbal-stem-cell-deficiency" }, { "slug": "limitation-of-joint-mobility", "name": "Limitation of joint mobility", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/limitation-of-joint-mobility" }, { "slug": "limited-elbow-extension", "name": "Limited elbow extension", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/limited-elbow-extension" }, { "slug": "limited-elbow-movement", "name": "Limited elbow movement", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limited-elbow-movement" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "long-nose", "name": "Long nose", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/long-nose" }, { "slug": "long-philtrum", "name": "Long philtrum", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/long-philtrum" }, { "slug": "arachnodactyly", "name": "Long slender fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/arachnodactyly" }, { "slug": "dolichocephaly", "name": "Long, narrow head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dolichocephaly" }, { "slug": "anosmia", "name": "Lost smell", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/anosmia" }, { "slug": "low-anterior-hairline", "name": "Low frontal hairline", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/low-anterior-hairline" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "otitis-media", "name": "Middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/otitis-media" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "migraine", "name": "Migraine", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/migraine" }, { "slug": "absent-radius", "name": "Missing outer large bone of forearm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/absent-radius" }, { "slug": "mixed-hearing-impairment", "name": "Mixed hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mixed-hearing-impairment" }, { "slug": "multiple-suture-craniosynostosis", "name": "Multiple suture craniosynostosis", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/multiple-suture-craniosynostosis" }, { "slug": "narrow-chest", "name": "Narrow chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/narrow-chest" }, { "slug": "stenosis-of-the-external-auditory-canal", "name": "Narrow ear canal", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/stenosis-of-the-external-auditory-canal" }, { "slug": "narrow-internal-auditory-canal", "name": "Narrow internal auditory canal", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-internal-auditory-canal" }, { "slug": "narrow-mouth", "name": "Narrow mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-mouth" }, { "slug": "narrow-nose", "name": "Narrow nose", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/narrow-nose" }, { "slug": "narrow-palate", "name": "Narrow palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-palate" }, { "slug": "narrow-pelvis-bone", "name": "Narrow pelvis bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/narrow-pelvis-bone" }, { "slug": "choanal-stenosis", "name": "Narrowing of the rear opening of the nasal cavity", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/choanal-stenosis" }, { "slug": "lacrimal-duct-stenosis", "name": "Narrowing of the tear duct", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lacrimal-duct-stenosis" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "corneal-neovascularization", "name": "New blood vessel formation in cornea", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/corneal-neovascularization" }, { "slug": "early-onset-non-progressive-night-blindness", "name": "Night blindness since birth", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/early-onset-non-progressive-night-blindness" }, { "slug": "partial-duplication-of-the-distal-phalanx-of-the-2nd-finger", "name": "Notched outermost bone of the index finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/partial-duplication-of-the-distal-phalanx-of-the-2nd-finger" }, { "slug": "partial-duplication-of-the-distal-phalanx-of-the-3rd-finger", "name": "Notched outermost bone of the middle finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/partial-duplication-of-the-distal-phalanx-of-the-3rd-finger" }, { "slug": "airway-obstruction", "name": "Obstructive lung disease", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/airway-obstruction" }, { "slug": "open-angle-glaucoma", "name": "Open angle glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/open-angle-glaucoma" }, { "slug": "open-bite", "name": "Open bite", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/open-bite" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "exotropia", "name": "Outward facing eye ball", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/exotropia" }, { "slug": "overfolding-of-the-superior-helices", "name": "Overfolding of the superior helices", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/overfolding-of-the-superior-helices" }, { "slug": "overlapping-toe", "name": "Overlapping toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/overlapping-toe" }, { "slug": "overriding-aorta", "name": "Overriding aorta", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/overriding-aorta" }, { "slug": "oxycephaly", "name": "Oxycephaly", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/oxycephaly" }, { "slug": "palmoplantar-cutis-gyrata", "name": "Palmoplantar cutis gyrata", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/palmoplantar-cutis-gyrata" }, { "slug": "partial-duplication-of-thumb-phalanx", "name": "Partial duplication of the thumb bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/partial-duplication-of-thumb-phalanx" }, { "slug": "hypopigmented-skin-patches", "name": "Patchy loss of skin color", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypopigmented-skin-patches" }, { "slug": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/patent-ductus-arteriosus" }, { "slug": "sleep-apnea", "name": "Pauses in breathing while sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sleep-apnea" }, { "slug": "camptodactyly", "name": "Permanent flexion of the finger or toe", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/camptodactyly" }, { "slug": "pectus-carinatum", "name": "Pigeon chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pectus-carinatum" }, { "slug": "conjunctivitis", "name": "Pink eye", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/conjunctivitis" }, { "slug": "preauricular-pit", "name": "Pit in front of the ear", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/preauricular-pit" }, { "slug": "nail-dystrophy", "name": "Poor nail formation", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nail-dystrophy" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "posterior-fossa-cyst", "name": "Posterior fossa cyst", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/posterior-fossa-cyst" }, { "slug": "preauricular-skin-furrow", "name": "Preauricular skin groove", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/preauricular-skin-furrow" }, { "slug": "preaxial-foot-polydactyly", "name": "Preaxial foot polydactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/preaxial-foot-polydactyly" }, { "slug": "preaxial-polydactyly", "name": "Preaxial polydactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/preaxial-polydactyly" }, { "slug": "prominent-crus-of-helix", "name": "Prominent crus of helix", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-crus-of-helix" }, { "slug": "prominent-forehead", "name": "Prominent forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "prominent-nasal-bridge", "name": "Prominent nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prominent-nasal-bridge" }, { "slug": "prominent-scrotal-raphe", "name": "Prominent scrotal raphe", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prominent-scrotal-raphe" }, { "slug": "hyperlordosis", "name": "Prominent swayback", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperlordosis" }, { "slug": "proximal-radio-ulnar-synostosis", "name": "Proximal radio-ulnar synostosis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/proximal-radio-ulnar-synostosis" }, { "slug": "pyloric-stenosis", "name": "Pyloric stenosis", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/pyloric-stenosis" }, { "slug": "recurrent-corneal-erosions", "name": "Recurrent breakdown of clear protective layer of eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-corneal-erosions" }, { "slug": "redundant-neck-skin", "name": "Redundant neck skin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/redundant-neck-skin" }, { "slug": "redundant-umbilical-skin", "name": "Redundant umbilical skin", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/redundant-umbilical-skin" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "rhizomelic-arm-shortening", "name": "Rhizomelic arm shortening", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system", "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/rhizomelic-arm-shortening" }, { "slug": "increased-intracranial-pressure", "name": "Rise in pressure inside skull", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-intracranial-pressure" }, { "slug": "rocker-bottom-foot", "name": "Rocker bottom foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/rocker-bottom-foot" }, { "slug": "nephrosclerosis", "name": "Scarring of kidney arteries", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/nephrosclerosis" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "short-first-metatarsal", "name": "Short 1st long bone of foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-first-metatarsal" }, { "slug": "short-hallux", "name": "Short big toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-hallux" }, { "slug": "short-clavicles", "name": "Short collarbone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-clavicles" }, { "slug": "brachydactyly", "name": "Short fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/brachydactyly" }, { "slug": "short-foot", "name": "Short foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-foot" }, { "slug": "short-metatarsal", "name": "Short long bone of foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-metatarsal" }, { "slug": "short-middle-phalanx-of-toe", "name": "Short middle bones (feet)", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/short-middle-phalanx-of-toe" }, { "slug": "short-nose", "name": "Short nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-nose" }, { "slug": "short-palm", "name": "Short palm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-palm" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "short-thumb", "name": "Short thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-thumb" }, { "slug": "shortening-of-all-middle-phalanges-of-the-fingers", "name": "Shortening of all middle phalanges of the fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/shortening-of-all-middle-phalanges-of-the-fingers" }, { "slug": "skin-tags", "name": "Skin tags", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/skin-tags" }, { "slug": "skull-asymmetry", "name": "Skull asymmetry", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/skull-asymmetry" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "microtia", "name": "Small ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microtia" }, { "slug": "hypoplastic-fingernail", "name": "Small fingernail", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplastic-fingernail" }, { "slug": "small-hand", "name": "Small hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/small-hand" }, { "slug": "renal-hypoplasia", "name": "Small kidneys", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/renal-hypoplasia" }, { "slug": "hypoplastic-labia-majora", "name": "Small labia majora", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplastic-labia-majora" }, { "slug": "small-nail", "name": "Small nail", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/small-nail" }, { "slug": "small-thenar-eminence", "name": "Small thenar eminence", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/small-thenar-eminence" }, { "slug": "micromelia", "name": "Smaller or shorter than typical limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/micromelia" }, { "slug": "decreased-calvarial-ossification", "name": "Soft skullcap", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-calvarial-ossification" }, { "slug": "laryngomalacia", "name": "Softening of voice box tissue", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/laryngomalacia" }, { "slug": "split-foot", "name": "Split foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/split-foot" }, { "slug": "steep-acetabular-roof", "name": "Steep acetabular roof", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/steep-acetabular-roof" }, { "slug": "stomach-cancer", "name": "Stomach cancer", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "url": "https://dantelabs.com/traits/stomach-cancer" }, { "slug": "turricephaly", "name": "Tall shaped head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/turricephaly" }, { "slug": "thickened-helices", "name": "Thickened helices", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thickened-helices" }, { "slug": "palmoplantar-keratoderma", "name": "Thickening of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/palmoplantar-keratoderma" }, { "slug": "enamel-hypoplasia", "name": "Thin dental enamel", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/enamel-hypoplasia" }, { "slug": "thin-upper-lip-vermilion", "name": "Thin red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "tracheal-cartilaginous-sleeve", "name": "Tracheal cartilaginous sleeve", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tracheal-cartilaginous-sleeve" }, { "slug": "trigonocephaly", "name": "Triangular head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/trigonocephaly" }, { "slug": "umbilical-hernia", "name": "Umbilical hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/umbilical-hernia" }, { "slug": "hypoplasia-of-the-ulna", "name": "Underdeveloped inner large forearm bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-ulna" }, { "slug": "hypoplasia-of-the-radius", "name": "Underdeveloped outer large forearm bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-radius" }, { "slug": "hypoplastic-lacrimal-duct", "name": "Underdeveloped tear duct", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/hypoplastic-lacrimal-duct" }, { "slug": "lacrimal-gland-hypoplasia", "name": "Underdeveloped tear gland", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/lacrimal-gland-hypoplasia" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "upper-airway-obstruction", "name": "Upper airway obstruction", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/upper-airway-obstruction" }, { "slug": "upslanted-palpebral-fissure", "name": "Upward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "vertebral-segmentation-defect", "name": "Vertebral segmentation defect", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vertebral-segmentation-defect" }, { "slug": "vesicoureteral-reflux", "name": "Vesicoureteral reflux", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vesicoureteral-reflux" }, { "slug": "visceral-angiomatosis", "name": "Visceral angiomatosis", "systems": [ "abnormality-of-the-cardiovascular-system", "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/visceral-angiomatosis" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-loss" }, { "slug": "2-3-toe-syndactyly", "name": "Webbed 2nd and 3rd toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/2-3-toe-syndactyly" }, { "slug": "2-3-finger-cutaneous-syndactyly", "name": "Webbed 2nd-3rd fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/2-3-finger-cutaneous-syndactyly" }, { "slug": "cutaneous-finger-syndactyly", "name": "Webbed fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cutaneous-finger-syndactyly" }, { "slug": "syndactyly", "name": "Webbed fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/syndactyly" }, { "slug": "cutaneous-syndactyly-of-toes", "name": "Webbed skin of toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cutaneous-syndactyly-of-toes" }, { "slug": "broad-first-metatarsal", "name": "Wide 1st long bone of foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/broad-first-metatarsal" }, { "slug": "large-fontanelles", "name": "Wide fontanelles", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/large-fontanelles" }, { "slug": "broad-metatarsal", "name": "Wide long bone of foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/broad-metatarsal" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "wide-intermamillary-distance", "name": "Wide-spaced nipples", "systems": [ "abnormality-of-the-breast" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wide-intermamillary-distance" }, { "slug": "wide-anterior-fontanel", "name": "Wider-than-typical soft spot of skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/wide-anterior-fontanel" }, { "slug": "malar-flattening", "name": "Zygomatic flattening", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/malar-flattening" } ], "related": [ { "slug": "cyp26b1", "symbol": "CYP26B1", "name": "cytochrome P450 family 26 subfamily B member 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/cyp26b1" }, { "slug": "erf", "symbol": "ERF", "name": "ETS2 repressor factor", "shared": 1, "url": "https://dantelabs.com/fr/genes/erf" }, { "slug": "fgfr1", "symbol": "FGFR1", "name": "fibroblast growth factor receptor 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/fgfr1" }, { "slug": "fgfr3", "symbol": "FGFR3", "name": "fibroblast growth factor receptor 3", "shared": 1, "url": "https://dantelabs.com/fr/genes/fgfr3" }, { "slug": "ift122", "symbol": "IFT122", "name": "intraflagellar transport 122", "shared": 1, "url": "https://dantelabs.com/fr/genes/ift122" }, { "slug": "ift43", "symbol": "IFT43", "name": "intraflagellar transport 43", "shared": 1, "url": "https://dantelabs.com/fr/genes/ift43" }, { "slug": "ift52", "symbol": "IFT52", "name": "intraflagellar transport 52", "shared": 1, "url": "https://dantelabs.com/fr/genes/ift52" }, { "slug": "il11ra", "symbol": "IL11RA", "name": "interleukin 11 receptor subunit alpha", "shared": 1, "url": "https://dantelabs.com/fr/genes/il11ra" }, { "slug": "kat6a", "symbol": "KAT6A", "name": "lysine acetyltransferase 6A", "shared": 1, "url": "https://dantelabs.com/fr/genes/kat6a" }, { "slug": "megf8", "symbol": "MEGF8", "name": "multiple EGF like domains 8", "shared": 1, "url": "https://dantelabs.com/fr/genes/megf8" }, { "slug": "msx2", "symbol": "MSX2", "name": "msh homeobox 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/msx2" }, { "slug": "por", "symbol": "POR", "name": "cytochrome p450 oxidoreductase", "shared": 1, "url": "https://dantelabs.com/fr/genes/por" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }