{ "url": "https://dantelabs.com/pt/genes/tp63", "gene": { "slug": "tp63", "symbol": "TP63", "name": "tumor protein p63", "hgnc": "HGNC:15979", "summary": null, "location": "3q28", "locusType": "gene with protein product", "aliases": [ "p51", "SHFM4", "EEC3", "p63", "p73L", "OFC8", "KET", "p73H", "NBP", "p53CP", "p40" ], "previousSymbols": [ "TP73L", "TP53L", "TP53CP" ], "ensemblId": "ENSG00000073282", "entrezId": 8626, "omim": [ "603273" ], "uniprot": [ "Q9H3D4" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 189631389, "end": 189897276, "strand": "+", "ensemblTranscript": "ENST00000264731.8", "refseqTranscript": "NM_003722.5", "ensemblProtein": "ENSP00000264731.3", "refseqProtein": "NP_003713.3", "exons": [ { "start": 189631389, "end": 189631577 }, { "start": 189737740, "end": 189737868 }, { "start": 189738642, "end": 189738774 }, { "start": 189808272, "end": 189808526 }, { "start": 189864232, "end": 189864418 }, { "start": 189866682, "end": 189866797 }, { "start": 189867833, "end": 189867942 }, { "start": 189868580, "end": 189868716 }, { "start": 189869324, "end": 189869406 }, { "start": 189872859, "end": 189872995 }, { "start": 189886394, "end": 189886551 }, { "start": 189889340, "end": 189889484 }, { "start": 189890789, "end": 189890882 }, { "start": 189894206, "end": 189897276 } ], "cds": { "start": 189631516, "end": 189894502 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "3", "start": 189349205, "end": 189615068, "strand": "+" }, "neighbourhood": { "release": "116", "start": 189264333, "end": 190264332, "genes": [ { "symbol": "TPRG1", "ensemblId": "ENSG00000188001", "biotype": "protein_coding", "start": 188947165, "end": 189325304, "strand": "+", "slug": "tprg1" }, { "symbol": "P3H2", "ensemblId": "ENSG00000090530", "biotype": "protein_coding", "start": 189956728, "end": 190122437, "strand": "-", "slug": "p3h2" } ], "truncated": false }, "reports": [ { "slug": "ectodermal-dysplasias", "name": "Displasias Ectodérmicas", "diseases": [ { "mondoId": "MONDO:1040001", "name": "Espetro de displasias ectodérmicas relacionadas com TP63", "genes": 1, "inheritance": "autosomal-dominant", "description": "Perturbações associadas a TP63 que combinam displasia ectodérmica com fenda labial ou palatina e malformações dos membros, incluindo as síndromes AEC, Rapp-Hodgkin, ADULT e EEC.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0011334", "name": "Síndrome membro-mama", "genes": 1, "inheritance": "autosomal-dominant", "description": "Uma perturbação associada a TP63, com malformações das mãos e dos pés e mamas ou mamilos pouco desenvolvidos.", "management": null, "evidence": { "gencc": [ "G2P" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/ectodermal-dysplasias" }, { "slug": "female-infertility", "name": "Infertilidade Feminina", "diseases": [ { "mondoId": "MONDO:0021124", "name": "Infertilidade Feminina", "genes": 37, "inheritance": null, "description": "Capacidade reduzida ou ausente de uma mulher para engravidar.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/female-infertility" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "3-4-finger-cutaneous-syndactyly", "name": "3-4 finger cutaneous syndactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/3-4-finger-cutaneous-syndactyly" }, { "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-eustachian-tube-morphology", "name": "Abnormal Eustachian tube morphology", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-eustachian-tube-morphology" }, { "slug": "fingernail-dysplasia", "name": "Abnormal fingernail development", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fingernail-dysplasia" }, { "slug": "abnormal-nasopharynx-morphology", "name": "Abnormal nasopharynx morphology", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/abnormal-nasopharynx-morphology" }, { "slug": "abnormal-number-of-permanent-teeth", "name": "Abnormal number of permanent teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-number-of-permanent-teeth" }, { "slug": "abnormal-nasal-morphology", "name": "Abnormal of nasal shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-nasal-morphology" }, { "slug": "abnormal-pattern-of-respiration", "name": "Abnormal pattern of respiration", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-pattern-of-respiration" }, { "slug": "toenail-dysplasia", "name": "Abnormal toenail development", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/toenail-dysplasia" }, { "slug": "abnormal-dental-enamel-morphology", "name": "Abnormal tooth enamel", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-dental-enamel-morphology" }, { "slug": "abnormal-dental-morphology", "name": "Abnormality of dental shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-dental-morphology" }, { "slug": "abnormality-of-masticatory-muscle", "name": "Abnormality of masticatory muscle", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-masticatory-muscle" }, { "slug": "abnormal-nasal-septum-morphology", "name": "Abnormality of septum of nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-nasal-septum-morphology" }, { "slug": "lacrimation-abnormality", "name": "Abnormality of tear production", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lacrimation-abnormality" }, { "slug": "abnormality-of-the-anus", "name": "Abnormality of the anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-anus" }, { "slug": "abnormal-clitoris-morphology", "name": "Abnormality of the clit", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-clitoris-morphology" }, { "slug": "abnormality-of-the-face", "name": "Abnormality of the face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-face" }, { "slug": "abnormality-of-the-inner-ear", "name": "Abnormality of the inner ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-inner-ear" }, { "slug": "abnormality-of-the-middle-ear", "name": "Abnormality of the middle ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-middle-ear" }, { "slug": "abnormal-nail-morphology", "name": "Abnormality of the nail", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-nail-morphology" }, { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "systems": [], "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" }, { "slug": "abnormality-of-the-ureter", "name": "Abnormality of the ureter", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-ureter" }, { "slug": "abnormality-of-dental-eruption", "name": "Abnormality of tooth eruption", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-dental-eruption" }, { "slug": "abnormal-pinna-morphology", "name": "Abnormally shaped ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-pinna-morphology" }, { "slug": "selective-tooth-agenesis", "name": "Absence of a tooth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/selective-tooth-agenesis" }, { "slug": "alopecia-of-scalp", "name": "Absence of scalp hair", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/alopecia-of-scalp" }, { "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": "obligate", "url": "https://dantelabs.com/traits/alacrima" }, { "slug": "breast-aplasia", "name": "Absent breast", "systems": [ "abnormality-of-the-breast" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/breast-aplasia" }, { "slug": "atresia-of-the-external-auditory-canal", "name": "Absent ear canal", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/atresia-of-the-external-auditory-canal" }, { "slug": "absent-eyelashes", "name": "Absent eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/absent-eyelashes" }, { "slug": "absent-hand", "name": "Absent hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-hand" }, { "slug": "aniridia", "name": "Absent iris", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aniridia" }, { "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": "obligate", "url": "https://dantelabs.com/traits/absent-lacrimal-punctum" }, { "slug": "anonychia", "name": "Absent nails", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/anonychia" }, { "slug": "absent-nipple", "name": "Absent nipple", "systems": [ "abnormality-of-the-breast" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-nipple" }, { "slug": "aplasia-of-the-ovary", "name": "Absent ovary", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/aplasia-of-the-ovary" }, { "slug": "aplasia-of-the-uterus", "name": "Absent uterus", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/aplasia-of-the-uterus" }, { "slug": "aplasia-hypoplasia-of-the-breasts", "name": "Absent/small breasts", "systems": [ "abnormality-of-the-breast" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-breasts" }, { "slug": "renal-hypoplasia-aplasia", "name": "Absent/small kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/renal-hypoplasia-aplasia" }, { "slug": "aplasia-hypoplasia-of-metatarsal-bones", "name": "Absent/small long bone of foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-metatarsal-bones" }, { "slug": "aplasia-hypoplasia-involving-the-metacarpal-bones", "name": "Absent/small long bones of hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/aplasia-hypoplasia-involving-the-metacarpal-bones" }, { "slug": "aplasia-hypoplasia-of-the-nipples", "name": "Absent/small nipples", "systems": [ "abnormality-of-the-breast" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-nipples" }, { "slug": "aplasia-hypoplasia-of-the-skin", "name": "Absent/small skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-skin" }, { "slug": "aplasia-hypoplasia-of-the-thumb", "name": "Absent/small thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-thumb" }, { "slug": "aplasia-hypoplasia-of-the-phalanges-of-the-toes", "name": "Absent/small toe bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-phalanges-of-the-toes" }, { "slug": "supernumerary-nipple", "name": "Accessory nipple", "systems": [ "abnormality-of-the-breast" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/supernumerary-nipple" }, { "slug": "adermatoglyphia", "name": "Adermatoglyphia", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/adermatoglyphia" }, { "slug": "ankyloblepharon", "name": "Adhesion of eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ankyloblepharon" }, { "slug": "situs-inversus-totalis", "name": "All organs on wrong side of body", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/situs-inversus-totalis" }, { "slug": "amniotic-constriction-ring", "name": "Amniotic constriction ring", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/amniotic-constriction-ring" }, { "slug": "anterior-hypopituitarism", "name": "Anterior hypopituitarism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anterior-hypopituitarism" }, { "slug": "anteriorly-placed-anus", "name": "Anteriorly placed anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anteriorly-placed-anus" }, { "slug": "aplasia-hypoplasia-of-the-phalanges-of-the-hand", "name": "Aplasia/Hypoplasia of the phalanges of the hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-phalanges-of-the-hand" }, { "slug": "proximal-placement-of-thumb", "name": "Attachment of thumb close to wrist", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/proximal-placement-of-thumb" }, { "slug": "nail-dysplasia", "name": "Atypical nail growth", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nail-dysplasia" }, { "slug": "dental-malocclusion", "name": "Bad bite", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dental-malocclusion" }, { "slug": "melanocytic-nevus", "name": "Beauty mark", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/melanocytic-nevus" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "bifid-uvula", "name": "Bifid uvula", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bifid-uvula" }, { "slug": "bilateral-choanal-atresia", "name": "Bilateral blockage of the rear opening of the nasal cavity", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-choanal-atresia" }, { "slug": "bladder-diverticulum", "name": "Bladder diverticulum", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/bladder-diverticulum" }, { "slug": "bladder-exstrophy", "name": "Bladder exstrophy", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bladder-exstrophy" }, { "slug": "choanal-atresia", "name": "Blockage of the rear opening of the nasal cavity", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/choanal-atresia" }, { "slug": "nasolacrimal-duct-obstruction", "name": "Blocked tear duct", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nasolacrimal-duct-obstruction" }, { "slug": "blue-irides", "name": "Blue eyes", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/blue-irides" }, { "slug": "bilateral-cleft-lip", "name": "Both sided cleft lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-cleft-lip" }, { "slug": "hallux-valgus", "name": "Bunion", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hallux-valgus" }, { "slug": "lymphoma", "name": "Cancer of lymphatic system", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lymphoma" }, { "slug": "central-diabetes-insipidus", "name": "Central diabetes insipidus", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/central-diabetes-insipidus" }, { "slug": "impaired-mastication", "name": "Chewing difficulties", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-mastication" }, { "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": "chronic-irritative-conjunctivitis", "name": "Chronic irritative conjunctivitis", "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/chronic-irritative-conjunctivitis" }, { "slug": "ectrodactyly", "name": "Cleft hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ectrodactyly" }, { "slug": "cleft-hard-palate", "name": "Cleft hard palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cleft-hard-palate" }, { "slug": "cleft-lip", "name": "Cleft lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cleft-lip" }, { "slug": "orofacial-cleft", "name": "Cleft of the mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/orofacial-cleft" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "cleft-upper-lip", "name": "Cleft upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cleft-upper-lip" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "coarse-hair", "name": "Coarse hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/coarse-hair" }, { "slug": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "conical-tooth", "name": "Cone shaped tooth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/conical-tooth" }, { "slug": "keratitis", "name": "Corneal inflammation", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/keratitis" }, { "slug": "clinodactyly-of-the-5th-finger", "name": "Curvature of little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger" }, { "slug": "dacryocystitis", "name": "Dacryocystitis", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "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": "frequent", "url": "https://dantelabs.com/traits/corneal-erosion" }, { "slug": "hypohidrosis", "name": "Decreased ability to sweat", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypohidrosis" }, { "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": "decreased-response-to-growth-hormone-stimulation-test", "name": "Decreased response to growth hormone stimulation test", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-response-to-growth-hormone-stimulation-test" }, { "slug": "xerostomia", "name": "Decreased salivary flow", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/xerostomia" }, { "slug": "decreased-serum-estradiol", "name": "Decreased serum estradiol", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-serum-estradiol" }, { "slug": "hypoplasia-of-the-maxilla", "name": "Decreased size of maxilla", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "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": "decreased-number-of-sweat-glands", "name": "Decreased sweat glands", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/decreased-number-of-sweat-glands" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "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" ], "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "depressed-nasal-tip", "name": "Depressed nasal tip", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/depressed-nasal-tip" }, { "slug": "disturbance-of-facial-expression", "name": "Disturbance of facial expression", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/disturbance-of-facial-expression" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "dry-skin", "name": "Dry skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dry-skin" }, { "slug": "duplicated-collecting-system", "name": "Duplicated collecting system", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/duplicated-collecting-system" }, { "slug": "duplication-of-hand-bones", "name": "Duplication of hand bones", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/duplication-of-hand-bones" }, { "slug": "premature-loss-of-permanent-teeth", "name": "Early loss of adult teeth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/premature-loss-of-permanent-teeth" }, { "slug": "ectodermal-dysplasia", "name": "Ectodermal dysplasia", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ectodermal-dysplasia" }, { "slug": "eczematoid-dermatitis", "name": "Eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/eczematoid-dermatitis" }, { "slug": "elevated-circulating-follicle-stimulating-hormone-level", "name": "Elevated circulating follicle stimulating hormone level", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-follicle-stimulating-hormone-level" }, { "slug": "epispadias", "name": "Epispadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/epispadias" }, { "slug": "facial-hirsutism", "name": "Excessive face hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/facial-hirsutism" }, { "slug": "supernumerary-maxillary-incisor", "name": "Extra upper front tooth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/supernumerary-maxillary-incisor" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "entropion", "name": "Eyelid folded in", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/entropion" }, { "slug": "hypodontia", "name": "Failure of development of between one and six teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypodontia" }, { "slug": "oligodontia", "name": "Failure of development of more than six teeth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/oligodontia" }, { "slug": "fair-hair", "name": "Fair hair", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/fair-hair" }, { "slug": "generalized-hypopigmentation", "name": "Fair skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-hypopigmentation" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "fine-hair", "name": "Fine hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fine-hair" }, { "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" ], "url": "https://dantelabs.com/traits/triphalangeal-thumb" }, { "slug": "pili-torti", "name": "Flattened and twisted hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pili-torti" }, { "slug": "freckling", "name": "Freckling", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/freckling" }, { "slug": "recurrent-urinary-tract-infections", "name": "Frequent urinary tract infections", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections" }, { "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": "alopecia", "name": "Hair loss", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/alopecia" }, { "slug": "hand-monodactyly", "name": "Hand monodactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hand-monodactyly" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "high-forehead", "name": "High forehead", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/high-forehead" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/polyhydramnios" }, { "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": "palate-fistula", "name": "Hole in roof of mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/palate-fistula" }, { "slug": "hydronephrosis", "name": "Hydronephrosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hydronephrosis" }, { "slug": "hydroureter", "name": "Hydroureter", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hydroureter" }, { "slug": "hyperkeratosis", "name": "Hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperkeratosis" }, { "slug": "hypogonadotropic-hypogonadism", "name": "Hypogonadotropic hypogonadism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypospadias" }, { "slug": "hyperconvex-nail", "name": "Increased nail curvature", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/hyperconvex-nail" }, { "slug": "macrodontia", "name": "Increased size of tooth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macrodontia" }, { "slug": "blepharitis", "name": "Inflammation of eyelids", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/blepharitis" }, { "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": "inguinal-hernia", "name": "Inguinal hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inguinal-hernia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "intestinal-malrotation", "name": "Intestinal malrotation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intestinal-malrotation" }, { "slug": "joint-contracture-of-the-hand", "name": "Joint contracture of the hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/joint-contracture-of-the-hand" }, { "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": "frequent", "url": "https://dantelabs.com/traits/keratoconjunctivitis" }, { "slug": "anhidrosis", "name": "Lack of sweating", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anhidrosis" }, { "slug": "sparse-axillary-hair", "name": "Limited armpit hair", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/sparse-axillary-hair" }, { "slug": "lip-pit", "name": "Lip pit", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lip-pit" }, { "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": "low-self-esteem", "name": "Low self-esteem", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/low-self-esteem" }, { "slug": "malnutrition", "name": "Malnutrition", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/malnutrition" }, { "slug": "megacystis", "name": "Megacystis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/megacystis" }, { "slug": "agenesis-of-lateral-incisor", "name": "Missing lateral incisor", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/agenesis-of-lateral-incisor" }, { "slug": "nevus", "name": "Mole", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nevus" }, { "slug": "multiple-cafe-au-lait-spots", "name": "Multiple birthmarks", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/multiple-cafe-au-lait-spots" }, { "slug": "nail-pits", "name": "Nail pits", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nail-pits" }, { "slug": "stenosis-of-the-external-auditory-canal", "name": "Narrow ear canal", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/stenosis-of-the-external-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": "blepharophimosis", "name": "Narrow opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/blepharophimosis" }, { "slug": "anal-stenosis", "name": "Narrowing of anal opening", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anal-stenosis" }, { "slug": "lacrimal-duct-stenosis", "name": "Narrowing of the tear duct", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lacrimal-duct-stenosis" }, { "slug": "urethral-stenosis", "name": "Narrowing of the urethra", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/urethral-stenosis" }, { "slug": "hypernasal-speech", "name": "Nasal speech", "systems": [ "abnormality-of-the-voice" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypernasal-speech" }, { "slug": "nasogastric-tube-feeding-in-infancy", "name": "Nasogastric tube feeding in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nasogastric-tube-feeding-in-infancy" }, { "slug": "non-midline-cleft-of-the-upper-lip", "name": "Non-midline cleft of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/non-midline-cleft-of-the-upper-lip" }, { "slug": "oligodactyly", "name": "Oligodactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/oligodactyly" }, { "slug": "omphalocele", "name": "Omphalocele", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/omphalocele" }, { "slug": "unilateral-cleft-palate", "name": "One sided cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/unilateral-cleft-palate" }, { "slug": "unilateral-cleft-lip", "name": "One sided cleft upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/unilateral-cleft-lip" }, { "slug": "skin-ulcer", "name": "Open skin sore", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skin-ulcer" }, { "slug": "oral-pharyngeal-dysphagia", "name": "Oral-pharyngeal dysphagia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oral-pharyngeal-dysphagia" }, { "slug": "oval-face", "name": "Oval face", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/oval-face" }, { "slug": "patchy-alopecia", "name": "Patchy baldness", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/patchy-alopecia" }, { "slug": "hyperpigmentation-of-the-skin", "name": "Patchy darkened skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin" }, { "slug": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/patent-ductus-arteriosus" }, { "slug": "peg-shaped-maxillary-lateral-incisors", "name": "Peg-shaped maxillary lateral incisors", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peg-shaped-maxillary-lateral-incisors" }, { "slug": "camptodactyly", "name": "Permanent flexion of the finger or toe", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/camptodactyly" }, { "slug": "cutaneous-photosensitivity", "name": "Photosensitive skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/cutaneous-photosensitivity" }, { "slug": "pili-canaliculi", "name": "Pili canaliculi", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/pili-canaliculi" }, { "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" ], "url": "https://dantelabs.com/traits/conjunctivitis" }, { "slug": "nail-dystrophy", "name": "Poor nail formation", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nail-dystrophy" }, { "slug": "poor-suck", "name": "Poor suck", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-suck" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "precocious-puberty-in-females", "name": "Precocious puberty in females", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/precocious-puberty-in-females" }, { "slug": "secondary-amenorrhea", "name": "Previous menstrual periods stop", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/secondary-amenorrhea" }, { "slug": "primary-amenorrhea", "name": "Primary amenorrhea", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/primary-amenorrhea" }, { "slug": "progressive-alopecia", "name": "Progressive alopecia", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/progressive-alopecia" }, { "slug": "protruding-ear", "name": "Prominent ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/protruding-ear" }, { "slug": "prominent-nasal-bridge", "name": "Prominent nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prominent-nasal-bridge" }, { "slug": "psoriasiform-dermatitis", "name": "Psoriasiform dermatitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/psoriasiform-dermatitis" }, { "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": "renal-dysplasia", "name": "Renal dysplasia", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/renal-dysplasia" }, { "slug": "bilateral-cleft-palate", "name": "Right and left cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bilateral-cleft-palate" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "micropenis", "name": "Short penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/micropenis" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "dermal-atrophy", "name": "Skin degeneration", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/dermal-atrophy" }, { "slug": "slow-growing-hair", "name": "Slow-growing hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/slow-growing-hair" }, { "slug": "microtia", "name": "Small ears", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/microtia" }, { "slug": "small-for-gestational-age", "name": "Small for gestational age", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/small-for-gestational-age" }, { "slug": "hypoplastic-labia-majora", "name": "Small labia majora", "systems": [ "abnormality-of-the-genitourinary-system" ], "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": "hypoplastic-nipples", "name": "Small nipples", "systems": [ "abnormality-of-the-breast" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplastic-nipples" }, { "slug": "hypoplastic-sacrum", "name": "Small sacrum", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplastic-sacrum" }, { "slug": "hypoplasia-of-the-thymus", "name": "Small thymus", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-endocrine-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-thymus" }, { "slug": "small-conical-teeth", "name": "Small, cone shaped teeth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/small-conical-teeth" }, { "slug": "sparse-body-hair", "name": "Sparse body hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sparse-body-hair" }, { "slug": "sparse-eyebrow", "name": "Sparse eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sparse-eyebrow" }, { "slug": "sparse-eyelashes", "name": "Sparse eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sparse-eyelashes" }, { "slug": "sparse-hair", "name": "Sparse hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sparse-hair" }, { "slug": "sparse-pubic-hair", "name": "Sparse pubic hair", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/sparse-pubic-hair" }, { "slug": "sparse-scalp-hair", "name": "Sparse scalp hair", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sparse-scalp-hair" }, { "slug": "specific-learning-disability", "name": "Specific learning disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/specific-learning-disability" }, { "slug": "speech-articulation-difficulties", "name": "Speech articulation difficulties", "systems": [ "abnormality-of-the-nervous-system", "abnormality-of-the-voice" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/speech-articulation-difficulties" }, { "slug": "split-foot", "name": "Split foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/split-foot" }, { "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": "streak-ovary", "name": "Streak ovary", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/streak-ovary" }, { "slug": "submucous-cleft-soft-palate", "name": "Submucous cleft soft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/submucous-cleft-soft-palate" }, { "slug": "taurodontia", "name": "Taurodontia", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/taurodontia" }, { "slug": "thick-eyebrow", "name": "Thick eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thick-eyebrow" }, { "slug": "onychogryphosis", "name": "Thick nail", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/onychogryphosis" }, { "slug": "palmoplantar-keratoderma", "name": "Thickening of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "obligate", "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": "obligate", "url": "https://dantelabs.com/traits/enamel-hypoplasia" }, { "slug": "thin-skin", "name": "Thin skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thin-skin" }, { "slug": "transverse-vaginal-septum", "name": "Transverse vaginal septum", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/transverse-vaginal-septum" }, { "slug": "bilateral-breast-hypoplasia", "name": "Two underdeveloped breasts", "systems": [ "abnormality-of-the-breast" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-breast-hypoplasia" }, { "slug": "umbilical-hernia", "name": "Umbilical hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/umbilical-hernia" }, { "slug": "uncombable-hair", "name": "Uncombable hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/uncombable-hair" }, { "slug": "breast-hypoplasia", "name": "Underdeveloped breasts", "systems": [ "abnormality-of-the-breast" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/breast-hypoplasia" }, { "slug": "hypoplasia-of-penis", "name": "Underdeveloped penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-penis" }, { "slug": "underdeveloped-nasal-alae", "name": "Underdeveloped tissue around nostril", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/underdeveloped-nasal-alae" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "lacrimal-duct-atresia", "name": "Unopened tear duct", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lacrimal-duct-atresia" }, { "slug": "ureterocele", "name": "Ureterocele", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/ureterocele" }, { "slug": "urethral-atresia", "name": "Urethral atresia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/urethral-atresia" }, { "slug": "vaginal-dryness", "name": "Vaginal dryness", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/vaginal-dryness" }, { "slug": "velopharyngeal-insufficiency", "name": "Velopharyngeal incompetence", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/velopharyngeal-insufficiency" }, { "slug": "vesicoureteral-reflux", "name": "Vesicoureteral reflux", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/vesicoureteral-reflux" }, { "slug": "2-3-toe-syndactyly", "name": "Webbed 2nd and 3rd toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/2-3-toe-syndactyly" }, { "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": "2-3-toe-cutaneous-syndactyly", "name": "Webbed skin of 2nd-3rd toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/2-3-toe-cutaneous-syndactyly" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wide-nasal-bridge" }, { "slug": "wide-intermamillary-distance", "name": "Wide-spaced nipples", "systems": [ "abnormality-of-the-breast" ], "url": "https://dantelabs.com/traits/wide-intermamillary-distance" }, { "slug": "widely-spaced-teeth", "name": "Widely spaced teeth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/widely-spaced-teeth" }, { "slug": "malar-flattening", "name": "Zygomatic flattening", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/malar-flattening" } ], "related": [ { "slug": "ankrd31", "symbol": "ANKRD31", "name": "ankyrin repeat domain 31", "shared": 1, "url": "https://dantelabs.com/pt/genes/ankrd31" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/pt/genes/atm" }, { "slug": "bmp15", "symbol": "BMP15", "name": "bone morphogenetic protein 15", "shared": 1, "url": "https://dantelabs.com/pt/genes/bmp15" }, { "slug": "bnc1", "symbol": "BNC1", "name": "basonuclin zinc finger protein 1", "shared": 1, "url": "https://dantelabs.com/pt/genes/bnc1" }, { "slug": "clpp", "symbol": "CLPP", "name": "caseinolytic mitochondrial matrix peptidase proteolytic subunit", "shared": 1, "url": "https://dantelabs.com/pt/genes/clpp" }, { "slug": "cyp19a1", "symbol": "CYP19A1", "name": "cytochrome P450 family 19 subfamily A member 1", "shared": 1, "url": "https://dantelabs.com/pt/genes/cyp19a1" }, { "slug": "fancm", "symbol": "FANCM", "name": "FA complementation group M", "shared": 1, "url": "https://dantelabs.com/pt/genes/fancm" }, { "slug": "figla", "symbol": "FIGLA", "name": "folliculogenesis specific bHLH transcription factor", "shared": 1, "url": "https://dantelabs.com/pt/genes/figla" }, { "slug": "fmr1", "symbol": "FMR1", "name": "fragile X messenger ribonucleoprotein 1", "shared": 1, "url": "https://dantelabs.com/pt/genes/fmr1" }, { "slug": "foxl2", "symbol": "FOXL2", "name": "forkhead box L2", "shared": 1, "url": "https://dantelabs.com/pt/genes/foxl2" }, { "slug": "fshr", "symbol": "FSHR", "name": "follicle stimulating hormone receptor", "shared": 1, "url": "https://dantelabs.com/pt/genes/fshr" }, { "slug": "galt", "symbol": "GALT", "name": "galactose-1-phosphate uridylyltransferase", "shared": 1, "url": "https://dantelabs.com/pt/genes/galt" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }