{ "url": "https://dantelabs.com/el/genes/fgfr3", "gene": { "slug": "fgfr3", "symbol": "FGFR3", "name": "fibroblast growth factor receptor 3", "hgnc": "HGNC:3690", "summary": null, "location": "4p16.3", "locusType": "gene with protein product", "aliases": [ "CEK2", "JTK4", "CD333" ], "previousSymbols": [ "ACH" ], "ensemblId": "ENSG00000068078", "entrezId": 2261, "omim": [ "134934" ], "uniprot": [ "P22607" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "4", "start": 1793293, "end": 1808867, "strand": "+", "ensemblTranscript": "ENST00000440486.8", "refseqTranscript": "NM_000142.5", "ensemblProtein": "ENSP00000414914.2", "refseqProtein": "NP_000133.1", "exons": [ { "start": 1793293, "end": 1793465 }, { "start": 1793833, "end": 1794043 }, { "start": 1799254, "end": 1799523 }, { "start": 1799747, "end": 1799812 }, { "start": 1801367, "end": 1801536 }, { "start": 1801620, "end": 1801743 }, { "start": 1801835, "end": 1802025 }, { "start": 1803692, "end": 1803836 }, { "start": 1804330, "end": 1804520 }, { "start": 1804824, "end": 1804969 }, { "start": 1805355, "end": 1805476 }, { "start": 1805559, "end": 1805669 }, { "start": 1805750, "end": 1805940 }, { "start": 1806051, "end": 1806173 }, { "start": 1806257, "end": 1806327 }, { "start": 1806546, "end": 1806683 }, { "start": 1806829, "end": 1806934 }, { "start": 1807116, "end": 1808867 } ], "cds": { "start": 1793935, "end": 1807262 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "4", "start": 1795034, "end": 1810599, "strand": "+" }, "neighbourhood": { "release": "116", "start": 1301080, "end": 2301079, "genes": [ { "symbol": "MAEA", "ensemblId": "ENSG00000090316", "biotype": "protein_coding", "start": 1289839, "end": 1340148, "strand": "+", "slug": "maea" }, { "symbol": "UVSSA", "ensemblId": "ENSG00000163945", "biotype": "protein_coding", "start": 1345691, "end": 1395989, "strand": "+", "slug": "uvssa" }, { "symbol": "NKX1-1", "ensemblId": "ENSG00000235608", "biotype": "protein_coding", "start": 1402932, "end": 1406442, "strand": "-", "slug": "nkx1-1" }, { "symbol": "FAM53A", "ensemblId": "ENSG00000174137", "biotype": "protein_coding", "start": 1617915, "end": 1684356, "strand": "-", "slug": "fam53a" }, { "symbol": "SLBP", "ensemblId": "ENSG00000163950", "biotype": "protein_coding", "start": 1692731, "end": 1712344, "strand": "-", "slug": "slbp" }, { "symbol": "TACC3", "ensemblId": "ENSG00000013810", "biotype": "protein_coding", "start": 1712858, "end": 1745178, "strand": "+", "slug": "tacc3" }, { "symbol": "TMEM129", "ensemblId": "ENSG00000168936", "biotype": "protein_coding", "start": 1715951, "end": 1721367, "strand": "-", "slug": "tmem129" }, { "symbol": "LETM1", "ensemblId": "ENSG00000168924", "biotype": "protein_coding", "start": 1811479, "end": 1856244, "strand": "-", "slug": "letm1" }, { "symbol": "NSD2", "ensemblId": "ENSG00000109685", "biotype": "protein_coding", "start": 1870559, "end": 1982207, "strand": "+", "slug": "nsd2" }, { "symbol": "NELFA", "ensemblId": "ENSG00000185049", "biotype": "protein_coding", "start": 1982715, "end": 2041903, "strand": "-", "slug": "nelfa" }, { "symbol": "NICOL1", "ensemblId": "ENSG00000243449", "biotype": "protein_coding", "start": 2040628, "end": 2043964, "strand": "+", "slug": "nicol1" }, { "symbol": "ASPNAT", "ensemblId": "ENSG00000185818", "biotype": "protein_coding", "start": 2058662, "end": 2069089, "strand": "+", "slug": "aspnat" }, { "symbol": "POLN", "ensemblId": "ENSG00000130997", "biotype": "protein_coding", "start": 2071918, "end": 2242138, "strand": "-", "slug": "poln" }, { "symbol": "", "ensemblId": "ENSG00000290263", "biotype": "protein_coding", "start": 2078998, "end": 2242276, "strand": "-" }, { "symbol": "HAUS3", "ensemblId": "ENSG00000214367", "biotype": "protein_coding", "start": 2227462, "end": 2242190, "strand": "-", "slug": "haus3" }, { "symbol": "MXD4", "ensemblId": "ENSG00000123933", "biotype": "protein_coding", "start": 2247431, "end": 2262144, "strand": "-", "slug": "mxd4" }, { "symbol": "ZFYVE28", "ensemblId": "ENSG00000159733", "biotype": "protein_coding", "start": 2269578, "end": 2418794, "strand": "-", "slug": "zfyve28" } ], "truncated": false }, "reports": [ { "slug": "fgfr3-related-chondrodysplasias", "name": "Χονδροδυσπλασίες που σχετίζονται με το FGFR3 (Αχονδροπλασία και συναφείς καταστάσεις)", "diseases": [ { "mondoId": "MONDO:0019685", "name": "Χονδροδυσπλασία που σχετίζεται με το FGFR3", "genes": 1, "inheritance": "autosomal-dominant", "description": "Σκελετικές δυσπλασίες που προκαλούνται από μεταλλάξεις κέρδους λειτουργίας στο FGFR3, οι περισσότερες από τις οποίες εμφανίζονται για πρώτη φορά στο άτομο (de novo) και δεν κληρονομούνται από γονέα· σχεδόν όλες οι περιπτώσεις αχονδροπλασίας οφείλονται σε μία μόνο μετάλλαξη, την p.Gly380Arg.", "management": "Η εξειδικευμένη παρακολούθηση ελέγχει για επιπλοκές, όπως η στένωση στη βάση του κρανίου και της σπονδυλικής στήλης, και η βοσοριτίδη (vosoritide) έχει εγκριθεί για τη βελτίωση της ανάπτυξης σε παιδιά με αχονδροπλασία.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/el/conditions/fgfr3-related-chondrodysplasias" }, { "slug": "syndromic-craniosynostosis", "name": "Συνδρομική Κρανιοσυνοστέωση", "diseases": [ { "mondoId": "MONDO:0015338", "name": "Συνδρομική κρανιοσυνοστέωση", "genes": 23, "inheritance": null, "description": "Παθήσεις που συνδυάζουν το πρόωρο κλείσιμο των κρανιακών ραφών με άλλα χαρακτηριστικά, όπως τα σύνδρομα Apert, Crouzon, Pfeiffer, Muenke και Saethre-Chotzen, που προκαλούνται από γονίδια όπως τα FGFR2, FGFR3, FGFR1, TWIST1, TCF12 και ERF.", "management": "Η έγκαιρη διάγνωση επιτρέπει την έγκαιρη χειρουργική επέμβαση και την παρακολούθηση της ανάπτυξης της κεφαλής, της όρασης και της ακοής· πιο ήπιες μορφές, όπως το σύνδρομο Muenke, μπορεί να μην αναγνωρίζονται στους ενήλικες, γεγονός που έχει σημασία για τον οικογενειακό προγραμματισμό.", "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/el/conditions/syndromic-craniosynostosis" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "1-minute-apgar-score-of-1", "name": "1-minute APGAR score of 1", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/1-minute-apgar-score-of-1" }, { "slug": "5-minute-apgar-score-of-1", "name": "5-minute APGAR score of 1", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/5-minute-apgar-score-of-1" }, { "slug": "abnormal-antihelix-morphology", "name": "Abnormal antihelix morphology", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-antihelix-morphology" }, { "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": "abnormal-clavicle-morphology", "name": "Abnormal collarbone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-clavicle-morphology" }, { "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": "occasional", "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-iliac-wing-morphology", "name": "Abnormal iliac wing morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-iliac-wing-morphology" }, { "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-sacroiliac-joint-morphology", "name": "Abnormal sacroiliac joint morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-sacroiliac-joint-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-metacarpal-morphology", "name": "Abnormal shape of long bones of hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-metacarpal-morphology" }, { "slug": "abnormal-pelvic-girdle-bone-morphology", "name": "Abnormal shape of pelvic girdle bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-pelvic-girdle-bone-morphology" }, { "slug": "skeletal-dysplasia", "name": "Abnormal skeletal development", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skeletal-dysplasia" }, { "slug": "neoplasm", "name": "Abnormal tissue mass", "systems": [], "url": "https://dantelabs.com/traits/neoplasm" }, { "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": "very-frequent", "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": "abnormality-of-lower-limb-joint", "name": "Abnormality of lower limb joint", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-lower-limb-joint" }, { "slug": "abnormality-of-neuronal-migration", "name": "Abnormality of neuronal migration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration" }, { "slug": "abnormality-of-the-elbow", "name": "Abnormality of the elbow", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-elbow" }, { "slug": "abnormality-of-the-eye", "name": "Abnormality of the eye", "systems": [], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-eye" }, { "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-kidney", "name": "Abnormality of the kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-kidney" }, { "slug": "abnormal-midface-morphology", "name": "Abnormality of the midface", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-midface-morphology" }, { "slug": "abnormal-palate-morphology", "name": "Abnormality of the palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-palate-morphology" }, { "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-femur-morphology", "name": "Abnormality of the thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-femur-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": "abnormal-metaphysis-morphology", "name": "Abnormality of the wide portion of a long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology" }, { "slug": "hypotelorism", "name": "Abnormally close eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypotelorism" }, { "slug": "abnormal-pinna-morphology", "name": "Abnormally shaped ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-pinna-morphology" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "alacrima", "name": "Absence of tears in the eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/alacrima" }, { "slug": "absent-lacrimal-punctum", "name": "Absent lacrimal punctum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-lacrimal-punctum" }, { "slug": "azoospermia", "name": "Absent sperm in semen", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/azoospermia" }, { "slug": "lacrimal-duct-aplasia", "name": "Absent tear duct", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "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-cerebellum", "name": "Absent/small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellum" }, { "slug": "aplasia-hypoplasia-of-the-extremities", "name": "Absent/small extremities", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-extremities" }, { "slug": "aplasia-hypoplasia-of-the-lungs", "name": "Absent/small lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-lungs" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "atrial-septal-defect", "name": "An opening in the wall separating the top two chambers of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "aplasia-hypoplasia-of-the-mandible", "name": "Aplasia/Hypoplasia of the mandible", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-mandible" }, { "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": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "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" ], "url": "https://dantelabs.com/traits/dental-malocclusion" }, { "slug": "convex-nasal-ridge", "name": "Beaked nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/convex-nasal-ridge" }, { "slug": "melanocytic-nevus", "name": "Beauty mark", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/melanocytic-nevus" }, { "slug": "protuberant-abdomen", "name": "Belly sticks out", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/protuberant-abdomen" }, { "slug": "bifid-uvula", "name": "Bifid uvula", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bifid-uvula" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macrocephaly" }, { "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": "bladder-neoplasm", "name": "Bladder neoplasm", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "url": "https://dantelabs.com/traits/bladder-neoplasm" }, { "slug": "choanal-atresia", "name": "Blockage of the rear opening of the nasal cavity", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/choanal-atresia" }, { "slug": "fibular-bowing", "name": "Bowed calf bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fibular-bowing" }, { "slug": "bowing-of-the-legs", "name": "Bowed legs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bowing-of-the-legs" }, { "slug": "tibial-bowing", "name": "Bowed shankbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tibial-bowing" }, { "slug": "femoral-bowing", "name": "Bowed thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/femoral-bowing" }, { "slug": "radial-bowing", "name": "Bowing of outer large bone of the forearm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/radial-bowing" }, { "slug": "bowing-of-the-long-bones", "name": "Bowing of the long bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bowing-of-the-long-bones" }, { "slug": "brain-abscess", "name": "Brain abscess", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/brain-abscess" }, { "slug": "brain-atrophy", "name": "Brain degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/brain-atrophy" }, { "slug": "brain-stem-compression", "name": "Brain stem compression", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/brain-stem-compression" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "broad-hallux", "name": "Broad big toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-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-thumb", "name": "Broad thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "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": "wide-femoral-metaphysis", "name": "Broad wide portion of thigh bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/wide-femoral-metaphysis" }, { "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": "camptodactyly-of-toe", "name": "Camptodactyly of toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/camptodactyly-of-toe" }, { "slug": "renal-cell-carcinoma", "name": "Cancer starting in small tubes in kidneys", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "url": "https://dantelabs.com/traits/renal-cell-carcinoma" }, { "slug": "capitate-hamate-fusion", "name": "Capitate-hamate fusion", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/capitate-hamate-fusion" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "central-apnea", "name": "Central apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/central-apnea" }, { "slug": "central-sleep-apnea", "name": "Central sleep apnea", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/central-sleep-apnea" }, { "slug": "cervical-spinal-canal-stenosis", "name": "Cervical spinal canal stenosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cervical-spinal-canal-stenosis" }, { "slug": "cervix-cancer", "name": "Cervix cancer", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "url": "https://dantelabs.com/traits/cervix-cancer" }, { "slug": "champagne-cork-sign", "name": "Champagne cork sign", "systems": [ "abnormality-of-prenatal-development-or-birth", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/champagne-cork-sign" }, { "slug": "chiari-malformation", "name": "Chiari malformation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chiari-malformation" }, { "slug": "childhood-onset-short-limb-short-stature", "name": "Childhood onset short-limb short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/childhood-onset-short-limb-short-stature" }, { "slug": "choriocarcinoma", "name": "Choriocarcinoma", "systems": [ "abnormality-of-prenatal-development-or-birth", "abnormality-of-the-genitourinary-system", "neoplasm" ], "url": "https://dantelabs.com/traits/choriocarcinoma" }, { "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": "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": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "colon-cancer", "name": "Colon cancer", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "url": "https://dantelabs.com/traits/colon-cancer" }, { "slug": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "conical-tooth", "name": "Cone shaped tooth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/conical-tooth" }, { "slug": "cone-shaped-epiphysis", "name": "Cone-shaped end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cone-shaped-epiphysis" }, { "slug": "cone-shaped-epiphyses-of-the-phalanges-of-the-hand", "name": "Cone-shaped end part of finger bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cone-shaped-epiphyses-of-the-phalanges-of-the-hand" }, { "slug": "corneal-ulceration", "name": "Corneal ulceration", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/corneal-ulceration" }, { "slug": "coronal-craniosynostosis", "name": "Coronal craniosynostosis", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/coronal-craniosynostosis" }, { "slug": "craniocervical-junction-constriction", "name": "Craniocervical junction constriction", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/craniocervical-junction-constriction" }, { "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" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ulnar-bowing" }, { "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": "floppy-infant", "name": "Decreased muscle tone in infant", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/floppy-infant" }, { "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": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla" }, { "slug": "microdontia", "name": "Decreased size of tooth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-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": "very-frequent", "url": "https://dantelabs.com/traits/craniosynostosis" }, { "slug": "osteoarthritis", "name": "Degenerative joint disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/osteoarthritis" }, { "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": "carious-teeth", "name": "Dental cavities", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/carious-teeth" }, { "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": "disproportionate-short-stature", "name": "Disproportionate short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/disproportionate-short-stature" }, { "slug": "disproportionate-short-limb-short-stature", "name": "Disproportionate short-limb short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/disproportionate-short-limb-short-stature" }, { "slug": "mesomelia", "name": "Disproportionately short middle portion of limb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mesomelia" }, { "slug": "rhizomelia", "name": "Disproportionately short upper portion of limb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system", "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/rhizomelia" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "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": "obligate", "url": "https://dantelabs.com/traits/duplication-of-thumb-phalanx" }, { "slug": "elevated-circulating-alpha-fetoprotein-concentration", "name": "Elevated circulating alpha-fetoprotein concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-circulating-alpha-fetoprotein-concentration" }, { "slug": "embryonal-neoplasm", "name": "Embryonal neoplasm", "systems": [ "neoplasm" ], "url": "https://dantelabs.com/traits/embryonal-neoplasm" }, { "slug": "encephalocele", "name": "Encephalocele", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/encephalocele" }, { "slug": "megalencephaly", "name": "Enlarged brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/megalencephaly" }, { "slug": "enlarged-cerebellum", "name": "Enlarged cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/enlarged-cerebellum" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "lumbar-hyperlordosis", "name": "Excessive inward curvature of lower spine", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lumbar-hyperlordosis" }, { "slug": "excessive-wrinkled-skin", "name": "Excessive wrinkled skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/excessive-wrinkled-skin" }, { "slug": "palmoplantar-cutis-laxa", "name": "Excessive wrinkled skin of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/palmoplantar-cutis-laxa" }, { "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": "very-frequent", "url": "https://dantelabs.com/traits/hypodontia" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "breech-presentation", "name": "Feet or buttocks of fetus positioned near opening of uterus", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/breech-presentation" }, { "slug": "finger-syndactyly", "name": "Finger syndactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "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": "flared-metaphysis", "name": "Flared wide portion of long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/flared-metaphysis" }, { "slug": "flat-acetabular-roof", "name": "Flat acetabular roof", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/flat-acetabular-roof" }, { "slug": "flat-face", "name": "Flat face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/flat-face" }, { "slug": "underdeveloped-supraorbital-ridges", "name": "Flattened bony protrusion above eyes", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/underdeveloped-supraorbital-ridges" }, { "slug": "platyspondyly", "name": "Flattened vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/platyspondyly" }, { "slug": "focal-impaired-awareness-seizure", "name": "Focal impaired awareness seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure" }, { "slug": "exostoses", "name": "Formation of new noncancerous bone on top of existing bone", "systems": [ "abnormality-of-the-musculoskeletal-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exostoses" }, { "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": "functional-abnormality-of-the-middle-ear", "name": "Functional abnormality of the middle ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/functional-abnormality-of-the-middle-ear" }, { "slug": "pectus-excavatum", "name": "Funnel chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/pectus-excavatum" }, { "slug": "tarsal-synostosis", "name": "Fused ankle bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tarsal-synostosis" }, { "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": "metacarpal-synostosis", "name": "Fused long bones of hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/metacarpal-synostosis" }, { "slug": "toe-syndactyly", "name": "Fused toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/toe-syndactyly" }, { "slug": "carpal-synostosis", "name": "Fused wrist bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/carpal-synostosis" }, { "slug": "generalized-onset-seizure", "name": "Generalized-onset seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/generalized-onset-seizure" }, { "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": "gray-matter-heterotopia", "name": "Gray matter heterotopia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gray-matter-heterotopia" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/headache" }, { "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": "hereditary-nonpolyposis-colorectal-carcinoma", "name": "Hereditary nonpolyposis colorectal carcinoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "url": "https://dantelabs.com/traits/hereditary-nonpolyposis-colorectal-carcinoma" }, { "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": "obligate", "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": "high-narrow-palate", "name": "High, narrow palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-narrow-palate" }, { "slug": "hip-joint-hypermobility", "name": "Hip joint hypermobility", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hip-joint-hypermobility" }, { "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": "holoprosencephaly", "name": "Holoprosencephaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/holoprosencephaly" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "lumbar-kyphosis-in-infancy", "name": "Hunched back in infancy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/lumbar-kyphosis-in-infancy" }, { "slug": "hydronephrosis", "name": "Hydronephrosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hydronephrosis" }, { "slug": "generalized-joint-hypermobility", "name": "Hypermobility of all joints", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-joint-hypermobility" }, { "slug": "hypermelanotic-macule", "name": "Hyperpigmented skin patches", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypermelanotic-macule" }, { "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-pelvis", "name": "Hypoplastic pelvis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplastic-pelvis" }, { "slug": "pulmonary-arterial-hypertension", "name": "Increased blood pressure in blood vessels of lungs", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension" }, { "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-nuchal-translucency", "name": "Increased nuchal translucency", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-metabolism-homeostasis", "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-nuchal-translucency" }, { "slug": "epiphora", "name": "Increased tears", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epiphora" }, { "slug": "increased-vertebral-height", "name": "Increased vertebral height", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/increased-vertebral-height" }, { "slug": "inflammatory-abnormality-of-the-eye", "name": "Inflammatory abnormality of the eye", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inflammatory-abnormality-of-the-eye" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "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": "profound-intellectual-disability", "name": "IQ less than 20", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/profound-intellectual-disability" }, { "slug": "metaphyseal-irregularity", "name": "Irregular wide portion of a long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/metaphyseal-irregularity" }, { "slug": "joint-stiffness", "name": "Joint stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/joint-stiffness" }, { "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": "knee-joint-hypermobility", "name": "Knee joint over-flexibility", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/knee-joint-hypermobility" }, { "slug": "amblyopia", "name": "Lazy eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/amblyopia" }, { "slug": "decreased-fetal-movement", "name": "Less than 10 fetal movements in 12 hours", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/decreased-fetal-movement" }, { "slug": "lethal-short-limbed-short-stature", "name": "Lethal short-limbed short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lethal-short-limbed-short-stature" }, { "slug": "limb-undergrowth", "name": "Limb undergrowth", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/limb-undergrowth" }, { "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": "occasional", "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" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limited-elbow-extension" }, { "slug": "limited-hip-extension", "name": "Limited hip extension", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/limited-hip-extension" }, { "slug": "small-foramen-magnum", "name": "Little foramen magnum", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/small-foramen-magnum" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "arachnodactyly", "name": "Long slender fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/arachnodactyly" }, { "slug": "redundant-skin", "name": "Loose redundant skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/redundant-skin" }, { "slug": "urinary-incontinence", "name": "Loss of bladder control", "systems": [ "abnormality-of-the-genitourinary-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/urinary-incontinence" }, { "slug": "bowel-incontinence", "name": "Loss of bowel control", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bowel-incontinence" }, { "slug": "hypopigmentation-of-hair", "name": "Loss of hair color", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypopigmentation-of-hair" }, { "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": "hypoxemia", "name": "Low blood oxygen level", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoxemia" }, { "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": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "irregular-menstruation", "name": "Menstrual irregularity", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/irregular-menstruation" }, { "slug": "metaphyseal-chondrodysplasia", "name": "Metaphyseal chondrodysplasia", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/metaphyseal-chondrodysplasia" }, { "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": "mixed-hearing-impairment", "name": "Mixed hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mixed-hearing-impairment" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "narrow-chest", "name": "Narrow chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-chest" }, { "slug": "narrow-greater-sciatic-notch", "name": "Narrow greater sciatic notch", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-greater-sciatic-notch" }, { "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-palate", "name": "Narrow palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-palate" }, { "slug": "spinal-canal-stenosis", "name": "Narrow spinal canal", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spinal-canal-stenosis" }, { "slug": "narrow-vertebral-interpedicular-distance", "name": "Narrow vertebral interpedicular distance", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-vertebral-interpedicular-distance" }, { "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": "frequent", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "neonatal-respiratory-distress", "name": "Neonatal respiratory distress", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/neonatal-respiratory-distress" }, { "slug": "neonatal-short-limb-short-stature", "name": "Neonatal short-limb short stature", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/neonatal-short-limb-short-stature" }, { "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": "numerous-nevi", "name": "Numerous moles", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/numerous-nevi" }, { "slug": "obesity", "name": "Obesity", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/obesity" }, { "slug": "obstructive-sleep-apnea", "name": "Obstructive sleep apnea", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/obstructive-sleep-apnea" }, { "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": "occasional", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "osteochondroma", "name": "Osteochondroma", "systems": [ "abnormality-of-the-musculoskeletal-system", "neoplasm" ], "url": "https://dantelabs.com/traits/osteochondroma" }, { "slug": "genu-varum", "name": "Outward bow-leggedness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/genu-varum" }, { "slug": "exotropia", "name": "Outward facing eye ball", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exotropia" }, { "slug": "parietal-bossing", "name": "Parietal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/parietal-bossing" }, { "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": "occasional", "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-of-finger", "name": "Permanent flexion of the finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/camptodactyly-of-finger" }, { "slug": "camptodactyly", "name": "Permanent flexion of the finger or toe", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/camptodactyly" }, { "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": "obligate", "url": "https://dantelabs.com/traits/conjunctivitis" }, { "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": "pulmonary-hypoplasia", "name": "Poorly developed lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pulmonary-hypoplasia" }, { "slug": "premature-rupture-of-membranes", "name": "Premature rupture of membranes", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/premature-rupture-of-membranes" }, { "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": "frequent", "url": "https://dantelabs.com/traits/prominent-nasal-bridge" }, { "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": "radial-deviation-of-finger", "name": "Radial deviation of finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/radial-deviation-of-finger" }, { "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": "recurrent-otitis-media", "name": "Recurrent middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-otitis-media" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "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": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "severe-global-developmental-delay", "name": "Severe global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-global-developmental-delay" }, { "slug": "high-myopia", "name": "Severe near sightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-myopia" }, { "slug": "severe-platyspondyly", "name": "Severe platyspondyly", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-platyspondyly" }, { "slug": "severe-short-stature", "name": "Severe short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-short-stature" }, { "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-greater-sciatic-notch", "name": "Short greater sciatic notch", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-greater-sciatic-notch" }, { "slug": "short-long-bone", "name": "Short long bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-long-bone" }, { "slug": "short-middle-phalanx-of-finger", "name": "Short middle bone of finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-middle-phalanx-of-finger" }, { "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-nasal-bridge", "name": "Short nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-nasal-bridge" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "short-femoral-neck", "name": "Short neck of thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-femoral-neck" }, { "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-proximal-phalanx-of-finger", "name": "Short proximal phalanx of finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-proximal-phalanx-of-finger" }, { "slug": "short-ribs", "name": "Short ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-ribs" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "short-femur", "name": "Short thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-femur" }, { "slug": "short-thumb", "name": "Short thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-thumb" }, { "slug": "short-toe", "name": "Short toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-toe" }, { "slug": "short-thorax", "name": "Shorter than typical length between neck and abdomen", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-thorax" }, { "slug": "skin-tags", "name": "Skin tags", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/skin-tags" }, { "slug": "small-abnormally-formed-scapulae", "name": "Small abnormally formed shoulder blade", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/small-abnormally-formed-scapulae" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "thoracic-hypoplasia", "name": "Small chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thoracic-hypoplasia" }, { "slug": "microtia", "name": "Small ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microtia" }, { "slug": "small-face", "name": "Small face", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/small-face" }, { "slug": "renal-hypoplasia", "name": "Small kidneys", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/renal-hypoplasia" }, { "slug": "hypoplastic-ilia", "name": "Small wings of the pelvic girdle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoplastic-ilia" }, { "slug": "micromelia", "name": "Smaller or shorter than typical limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/micromelia" }, { "slug": "spinal-stenosis-with-reduced-interpedicular-distance", "name": "Spinal stenosis with reduced interpedicular distance", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/spinal-stenosis-with-reduced-interpedicular-distance" }, { "slug": "split-hand", "name": "Split hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/split-hand" }, { "slug": "restrictive-ventilatory-defect", "name": "Stiff lung or chest wall causing decreased lung volume", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect" }, { "slug": "neoplasm-of-the-stomach", "name": "Stomach tumor", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "url": "https://dantelabs.com/traits/neoplasm-of-the-stomach" }, { "slug": "turricephaly", "name": "Tall shaped head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/turricephaly" }, { "slug": "tall-stature", "name": "Tall stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tall-stature" }, { "slug": "temporal-bossing", "name": "Temporal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/temporal-bossing" }, { "slug": "temporal-lobe-dysplasia", "name": "Temporal lobe dysplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/temporal-lobe-dysplasia" }, { "slug": "teratoma", "name": "Teratoma", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "url": "https://dantelabs.com/traits/teratoma" }, { "slug": "thimble-shaped-middle-phalanges-of-hand", "name": "Thimble-shaped middle bones of hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thimble-shaped-middle-phalanges-of-hand" }, { "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": "thoracolumbar-kyphosis", "name": "Thoracolumbar kyphosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thoracolumbar-kyphosis" }, { "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": "transitional-cell-carcinoma-of-the-bladder", "name": "Transitional cell carcinoma of the bladder", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "url": "https://dantelabs.com/traits/transitional-cell-carcinoma-of-the-bladder" }, { "slug": "trident-hand", "name": "Trident hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/trident-hand" }, { "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": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "lacrimal-duct-atresia", "name": "Unopened tear duct", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lacrimal-duct-atresia" }, { "slug": "upper-airway-obstruction", "name": "Upper airway obstruction", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/upper-airway-obstruction" }, { "slug": "uterine-leiomyoma", "name": "Uterine leiomyoma", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/uterine-leiomyoma" }, { "slug": "uterine-leiomyosarcoma", "name": "Uterine leiomyosarcoma", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "url": "https://dantelabs.com/traits/uterine-leiomyosarcoma" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "vesicoureteral-reflux", "name": "Vesicoureteral reflux", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/vesicoureteral-reflux" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "syndactyly", "name": "Webbed fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/syndactyly" }, { "slug": "wide-cupped-costochondral-junctions", "name": "Wide-cupped costochondral junctions", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/wide-cupped-costochondral-junctions" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "widened-interpedicular-distance", "name": "Widened interpedicular distance", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/widened-interpedicular-distance" }, { "slug": "wide-anterior-fontanel", "name": "Wider-than-typical soft spot of skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "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": "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/el/genes/cyp26b1" }, { "slug": "erf", "symbol": "ERF", "name": "ETS2 repressor factor", "shared": 1, "url": "https://dantelabs.com/el/genes/erf" }, { "slug": "fgfr1", "symbol": "FGFR1", "name": 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