{ "url": "https://dantelabs.com/fi/genes/kmt2d", "gene": { "slug": "kmt2d", "symbol": "KMT2D", "name": "lysine methyltransferase 2D", "hgnc": "HGNC:7133", "summary": null, "location": "12q13.12", "locusType": "gene with protein product", "aliases": [ "ALR", "MLL4", "CAGL114" ], "previousSymbols": [ "TNRC21", "MLL2" ], "ensemblId": "ENSG00000167548", "entrezId": 8085, "omim": [ "602113" ], "uniprot": [ "O14686" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 49018978, "end": 49060794, "strand": "-", "ensemblTranscript": "ENST00000301067.12", "refseqTranscript": "NM_003482.4", "ensemblProtein": "ENSP00000301067.7", "refseqProtein": "NP_003473.3", "exons": [ { "start": 49018978, "end": 49021872 }, { "start": 49022043, "end": 49022151 }, { "start": 49022280, "end": 49022353 }, { "start": 49022590, "end": 49022875 }, { "start": 49024578, "end": 49024708 }, { "start": 49024810, "end": 49024946 }, { "start": 49026182, "end": 49027322 }, { "start": 49027803, "end": 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"12", "start": 49412758, "end": 49453557, "strand": "-" }, "neighbourhood": { "release": "116", "start": 48539886, "end": 49539885, "genes": [ { "symbol": "OR5BS1", "ensemblId": "ENSG00000198678", "biotype": "protein_coding", "start": 48559882, "end": 48562956, "strand": "+", "slug": "or5bs1" }, { "symbol": "LALBA", "ensemblId": "ENSG00000167531", "biotype": "protein_coding", "start": 48567684, "end": 48571865, "strand": "-", "slug": "lalba" }, { "symbol": "KANSL2", "ensemblId": "ENSG00000139620", "biotype": "protein_coding", "start": 48653211, "end": 48682265, "strand": "-", "slug": "kansl2" }, { "symbol": "CCNT1", "ensemblId": "ENSG00000129315", "biotype": "protein_coding", "start": 48687601, "end": 48716998, "strand": "-", "slug": "ccnt1" }, { "symbol": "SPMIP11", "ensemblId": "ENSG00000257987", "biotype": "protein_coding", "start": 48727435, "end": 48765790, "strand": "+", "slug": "spmip11" }, { "symbol": "ADCY6", "ensemblId": "ENSG00000174233", "biotype": "protein_coding", "start": 48766191, "end": 48789906, "strand": "-", "slug": "adcy6" }, { "symbol": "CACNB3", "ensemblId": "ENSG00000167535", "biotype": "protein_coding", "start": 48813794, "end": 48828942, "strand": "+", "slug": "cacnb3" }, { "symbol": "DDX23", "ensemblId": "ENSG00000174243", "biotype": "protein_coding", "start": 48829756, "end": 48852842, "strand": "-", "slug": "ddx23" }, { "symbol": "RND1", "ensemblId": "ENSG00000172602", "biotype": "protein_coding", "start": 48857134, "end": 48865870, "strand": "-", "slug": "rnd1" }, { "symbol": "ARF3", "ensemblId": "ENSG00000134287", "biotype": "protein_coding", "start": 48903141, "end": 48957531, "strand": "-", "slug": "arf3" }, { "symbol": "", "ensemblId": "ENSG00000272822", "biotype": "protein_coding", "start": 48903503, "end": 48957365, "strand": "-" }, { "symbol": "DRC2", "ensemblId": "ENSG00000139537", "biotype": "protein_coding", "start": 48904105, "end": 48931840, "strand": "+", "slug": "drc2" }, { "symbol": "FKBP11", "ensemblId": "ENSG00000134285", "biotype": "protein_coding", "start": 48921518, "end": 48927909, "strand": "-", "slug": "fkbp11" }, { "symbol": "WNT10B", "ensemblId": "ENSG00000169884", "biotype": "protein_coding", "start": 48965185, "end": 48972669, "strand": "-", "slug": "wnt10b" }, { "symbol": "WNT1", "ensemblId": "ENSG00000125084", "biotype": "protein_coding", "start": 48978322, "end": 48982620, "strand": "+", "slug": "wnt1" }, { "symbol": "DDN", "ensemblId": "ENSG00000181418", "biotype": "protein_coding", "start": 48995149, "end": 48999375, "strand": "-", "slug": "ddn" }, { "symbol": "PRKAG1", "ensemblId": "ENSG00000181929", "biotype": "protein_coding", "start": 49002272, "end": 49018820, "strand": "-", "slug": "prkag1" }, { "symbol": "", "ensemblId": "ENSG00000288710", "biotype": "protein_coding", "start": 49002274, "end": 49024075, "strand": "-" }, { "symbol": "RHEBL1", "ensemblId": "ENSG00000167550", "biotype": "protein_coding", "start": 49064675, "end": 49070127, "strand": "-", "slug": "rhebl1" }, { "symbol": "DHH", "ensemblId": "ENSG00000139549", "biotype": "protein_coding", "start": 49086656, "end": 49094807, "strand": "-", "slug": "dhh" }, { "symbol": "LMBR1L", "ensemblId": "ENSG00000139636", "biotype": "protein_coding", "start": 49096550, "end": 49110900, "strand": "-", "slug": "lmbr1l" }, { "symbol": "TUBA1B", "ensemblId": "ENSG00000123416", "biotype": "protein_coding", "start": 49127780, "end": 49131398, "strand": "-", "slug": "tuba1b" }, { "symbol": "TUBA1A", "ensemblId": "ENSG00000167552", "biotype": "protein_coding", "start": 49184146, "end": 49189324, "strand": "-", "slug": "tuba1a" }, { "symbol": "TUBA1C", "ensemblId": "ENSG00000167553", "biotype": "protein_coding", "start": 49188736, "end": 49274600, "strand": "+", "slug": "tuba1c" }, { "symbol": "PRPH", "ensemblId": "ENSG00000135406", "biotype": "protein_coding", "start": 49295141, "end": 49298686, "strand": "+", "slug": "prph" }, { "symbol": "TROAP", "ensemblId": "ENSG00000135451", "biotype": "protein_coding", "start": 49323165, "end": 49331735, "strand": "+", "slug": "troap" }, { "symbol": "C1QL4", "ensemblId": "ENSG00000186897", "biotype": "protein_coding", "start": 49332409, "end": 49337227, "strand": "-", "slug": "c1ql4" }, { "symbol": "DNAJC22", "ensemblId": "ENSG00000178401", "biotype": "protein_coding", "start": 49345607, "end": 49357546, "strand": "+", "slug": "dnajc22" }, { "symbol": "SPATS2", "ensemblId": "ENSG00000123352", "biotype": "protein_coding", "start": 49366240, "end": 49528438, "strand": "+", "slug": "spats2" }, { "symbol": "KCNH3", "ensemblId": "ENSG00000135519", "biotype": "protein_coding", "start": 49539020, "end": 49558346, "strand": "+", "slug": "kcnh3" } ], "truncated": false }, "reports": [ { "slug": "kabuki-syndrome", "name": "Kabuki-oireyhtymä", "diseases": [ { "mondoId": "MONDO:0016512", "name": "Kabuki-oireyhtymä", "genes": 2, "inheritance": null, "description": "Monielinsairaus, jonka aiheuttavat KMT2D-geenin (tyyppi 1) tai KDM6A-geenin (tyyppi 2) variantit. Siihen kuuluvat tyypilliset kasvonpiirteet, lyhyt pituus ja älyllinen kehitysvammaisuus. Joskus esiintyy myös sydän-, munuais- tai immuunijärjestelmän ongelmia tai matala verensokeri.", "management": "Diagnoosi ohjaa seulontaa sydän-, munuais-, kuulo-, immuuni- ja verensokeriongelmien varalta.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/kabuki-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cardiac-septum-morphology", "name": "Abnormal cardiac septum morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cardiac-septum-morphology" }, { "slug": "abnormality-of-the-dentition", "name": "Abnormal dentition", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-dentition" }, { "slug": "abnormal-dermatoglyphics", "name": "Abnormal fingerprints", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-dermatoglyphics" }, { "slug": "hip-dysplasia", "name": "Abnormal formation of the hip", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hip-dysplasia" }, { "slug": "ectopic-kidney", "name": "Abnormal kidney location", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ectopic-kidney" }, { "slug": "abnormal-localization-of-kidney", "name": "Abnormal localisation of kidneys", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-localization-of-kidney" }, { "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-dental-morphology", "name": "Abnormality of dental shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-dental-morphology" }, { "slug": "abnormal-heart-morphology", "name": "Abnormality of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-heart-morphology" }, { "slug": "abnormality-of-the-outer-ear", "name": "Abnormality of the outer ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-outer-ear" }, { "slug": "hypotelorism", "name": "Abnormally close eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotelorism" }, { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microphthalmia" }, { "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": "anal-atresia", "name": "Absent anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anal-atresia" }, { "slug": "atresia-of-the-external-auditory-canal", "name": "Absent ear canal", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atresia-of-the-external-auditory-canal" }, { "slug": "absent-nipple", "name": "Absent nipple", "systems": [ "abnormality-of-the-breast" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-nipple" }, { "slug": "absent-pubertal-growth-spurt", "name": "Absent pubertal growth spurt", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-pubertal-growth-spurt" }, { "slug": "lacrimal-duct-aplasia", "name": "Absent tear duct", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lacrimal-duct-aplasia" }, { "slug": "aplasia-of-the-thymus", "name": "Absent thymus", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-endocrine-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-of-the-thymus" }, { "slug": "renal-hypoplasia-aplasia", "name": "Absent/small kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-hypoplasia-aplasia" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "alobar-holoprosencephaly", "name": "Alobar holoprosencephaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/alobar-holoprosencephaly" }, { "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": "frequent", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "anoperineal-fistula", "name": "Anoperineal fistula", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/anoperineal-fistula" }, { "slug": "anorectal-anomaly", "name": "Anorectal anomaly", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/anorectal-anomaly" }, { "slug": "anteriorly-placed-anus", "name": "Anteriorly placed anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anteriorly-placed-anus" }, { "slug": "bicuspid-aortic-valve", "name": "Aortic valve has two leaflets rather than three", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bicuspid-aortic-valve" }, { "slug": "aplasia-of-the-semicircular-canal", "name": "Aplasia of the semicircular canal", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-of-the-semicircular-canal" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "autoimmune-thrombocytopenia", "name": "Autoimmune thrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/autoimmune-thrombocytopenia" }, { "slug": "dental-malocclusion", "name": "Bad bite", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dental-malocclusion" }, { "slug": "facial-palsy", "name": "Bell's palsy", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/facial-palsy" }, { "slug": "bifid-uvula", "name": "Bifid uvula", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "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": "frequent", "url": "https://dantelabs.com/traits/bilateral-choanal-atresia" }, { "slug": "bilateral-conductive-hearing-impairment", "name": "Bilateral conductive hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bilateral-conductive-hearing-impairment" }, { "slug": "bilateral-renal-hypoplasia", "name": "Bilateral renal hypoplasia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-renal-hypoplasia" }, { "slug": "bilateral-tonic-clonic-seizure-with-focal-onset", "name": "Bilateral tonic-clonic seizure with focal onset", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-with-focal-onset" }, { "slug": "cafe-au-lait-spot", "name": "Birthmark", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/cafe-au-lait-spot" }, { "slug": "choanal-atresia", "name": "Blockage of the rear opening of the nasal cavity", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/choanal-atresia" }, { "slug": "nasolacrimal-duct-obstruction", "name": "Blocked tear duct", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nasolacrimal-duct-obstruction" }, { "slug": "blue-sclerae", "name": "Blue outer white part of eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/blue-sclerae" }, { "slug": "natal-tooth", "name": "Born with teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/natal-tooth" }, { "slug": "branchial-cyst", "name": "Branchial cyst", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/branchial-cyst" }, { "slug": "branchial-sinus", "name": "Branchial sinus", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/branchial-sinus" }, { "slug": "broad-hallux", "name": "Broad big toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/broad-hallux" }, { "slug": "long-palpebral-fissure", "name": "Broad opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/long-palpebral-fissure" }, { "slug": "broad-philtrum", "name": "Broad philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/broad-philtrum" }, { "slug": "bulbous-nose", "name": "Bulbous nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bulbous-nose" }, { "slug": "butterfly-vertebrae", "name": "Butterfly vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/butterfly-vertebrae" }, { "slug": "iris-coloboma", "name": "Cat eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/iris-coloboma" }, { "slug": "median-cleft-upper-lip", "name": "Central cleft upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/median-cleft-upper-lip" }, { "slug": "cholesteatoma", "name": "Cholesteatoma", "systems": [ "abnormality-of-the-ear", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cholesteatoma" }, { "slug": "chronic-otitis-media", "name": "Chronic infections of the middle ear", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-otitis-media" }, { "slug": "cleft-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": "frequent", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "expressive-language-delay", "name": "Communication delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/expressive-language-delay" }, { "slug": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "congenital-diaphragmatic-hernia", "name": "Congenital diaphragmatic hernia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congenital-diaphragmatic-hernia" }, { "slug": "microcornea", "name": "Cornea of eye less than 10mm in diameter", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microcornea" }, { "slug": "telecanthus", "name": "Corners of eye widely separated", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/telecanthus" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "crossed-fused-renal-ectopia", "name": "Crossed fused renal ectopia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/crossed-fused-renal-ectopia" }, { "slug": "cupped-ear", "name": "Cupped ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "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": "finger-clinodactyly", "name": "Curvature of finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/finger-clinodactyly" }, { "slug": "clinodactyly-of-the-5th-finger", "name": "Curvature of little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger" }, { "slug": "cerebral-cortical-atrophy", "name": "Decrease in size of the outer layer of the brain due to loss of brain cells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy" }, { "slug": "decreased-cd4-memory-t-cell-proportion", "name": "Decreased CD4+ memory T cell proportion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-cd4-memory-t-cell-proportion" }, { "slug": "decreased-circulating-iga-concentration", "name": "Decreased circulating IgA concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration" }, { "slug": "decreased-circulating-igg2-concentration", "name": "Decreased circulating IgG2 concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-circulating-igg2-concentration" }, { "slug": "decreased-circulating-total-igg-concentration", "name": "Decreased circulating total IgG concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-circulating-total-igg-concentration" }, { "slug": "decreased-memory-b-cell-proportion", "name": "Decreased memory B cell proportion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-memory-b-cell-proportion" }, { "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": "hypoparathyroidism", "name": "Decreased parathyroid hormone secretion", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoparathyroidism" }, { "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": "obligate", "url": "https://dantelabs.com/traits/decreased-response-to-growth-hormone-stimulation-test" }, { "slug": "microdontia", "name": "Decreased size of tooth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microdontia" }, { "slug": "thin-vermilion-border", "name": "Decreased volume of lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thin-vermilion-border" }, { "slug": "craniosynostosis", "name": "Deformity of the skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/craniosynostosis" }, { "slug": "persistence-of-primary-teeth", "name": "Delayed loss of baby teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/persistence-of-primary-teeth" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "carious-teeth", "name": "Dental cavities", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/carious-teeth" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "depressed-nasal-tip", "name": "Depressed nasal tip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depressed-nasal-tip" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dimple-chin", "name": "Dimple chin", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dimple-chin" }, { "slug": "congenital-hip-dislocation", "name": "Dislocated hip since birth", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congenital-hip-dislocation" }, { "slug": "ureteral-duplication", "name": "Double ureter", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ureteral-duplication" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "downturned-corners-of-mouth", "name": "Downturned corners of mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/downturned-corners-of-mouth" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "bilateral-ptosis", "name": "Drooping of both upper eyelids", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-ptosis" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "duplicated-collecting-system", "name": "Duplicated collecting system", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/duplicated-collecting-system" }, { "slug": "precocious-puberty", "name": "Early onset of puberty", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/precocious-puberty" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "echogenic-fetal-bowel", "name": "Echogenic fetal bowel", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/echogenic-fetal-bowel" }, { "slug": "eeg-abnormality", "name": "EEG abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/eeg-abnormality" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "eversion-of-lateral-third-of-lower-eyelids", "name": "Eversion of lateral third of lower eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/eversion-of-lateral-third-of-lower-eyelids" }, { "slug": "hypertrichosis", "name": "Excessive hair growth", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertrichosis" }, { "slug": "hirsutism", "name": "Excessive hairiness", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/hirsutism" }, { "slug": "renal-duplication", "name": "Extra kidney", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-duplication" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "lagophthalmos", "name": "Eyelids stay open", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lagophthalmos" }, { "slug": "facial-asymmetry", "name": "Facial asymmetry", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/facial-asymmetry" }, { "slug": "hypodontia", "name": "Failure of development of between one and six teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypodontia" }, { "slug": "oligodontia", "name": "Failure of development of more than six teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/oligodontia" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "depressed-nasal-ridge", "name": "Flat nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depressed-nasal-ridge" }, { "slug": "focal-impaired-awareness-seizure", "name": "Focal impaired awareness seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure" }, { "slug": "thick-lower-lip-vermilion", "name": "Full lower lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "postnatal-growth-retardation", "name": "Growth delay as children", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/postnatal-growth-retardation" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hemolytic-anemia", "name": "Hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/hemolytic-anemia" }, { "slug": "high-forehead", "name": "High forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-forehead" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/polyhydramnios" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "high-narrow-palate", "name": "High, narrow palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-narrow-palate" }, { "slug": "highly-arched-eyebrow", "name": "Highly arched eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/highly-arched-eyebrow" }, { "slug": "hip-dislocation", "name": "Hip dislocation", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hip-dislocation" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "hydrocele-testis", "name": "Hydrocele testis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydrocele-testis" }, { "slug": "hydronephrosis", "name": "Hydronephrosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydronephrosis" }, { "slug": "hyperinsulinemic-hypoglycemia", "name": "Hyperinsulinemic hypoglycemia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hyperinsulinemic-hypoglycemia" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypospadias" }, { "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": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "interrupted-aortic-arch", "name": "Interrupted aortic arch", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/interrupted-aortic-arch" }, { "slug": "intestinal-malrotation", "name": "Intestinal malrotation", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/intestinal-malrotation" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "joint-dislocation", "name": "Joint dislocation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-dislocation" }, { "slug": "large-earlobe", "name": "Large earlobe", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/large-earlobe" }, { "slug": "macrotia", "name": "Large ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macrotia" }, { "slug": "lateral-ventricle-dilatation", "name": "Lateral ventricle dilatation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation" }, { "slug": "amblyopia", "name": "Lazy eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/amblyopia" }, { "slug": "sparse-lateral-eyebrow", "name": "Limited hair on end of eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sparse-lateral-eyebrow" }, { "slug": "lip-pit", "name": "Lip pit", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lip-pit" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "lobar-holoprosencephaly", "name": "Lobar holoprosencephaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lobar-holoprosencephaly" }, { "slug": "long-eyelashes", "name": "Long eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/long-eyelashes" }, { "slug": "dolichocephaly", "name": "Long, narrow head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dolichocephaly" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "low-posterior-hairline", "name": "Low hairline at back of neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/low-posterior-hairline" }, { "slug": "low-hanging-columella", "name": "Low hanging columella", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/low-hanging-columella" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "malabsorption", "name": "Malabsorption", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/malabsorption" }, { "slug": "marcus-gunn-jaw-winking-synkinesis", "name": "Marcus Gunn jaw winking synkinesis", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/marcus-gunn-jaw-winking-synkinesis" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "hemivertebrae", "name": "Missing part of vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hemivertebrae" }, { "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" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "multicystic-kidney-dysplasia", "name": "Multicystic kidney dysplasia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/multicystic-kidney-dysplasia" }, { "slug": "narrow-face", "name": "Narrow face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/narrow-face" }, { "slug": "anal-stenosis", "name": "Narrowing of anal opening", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/anal-stenosis" }, { "slug": "coarctation-of-aorta", "name": "Narrowing of aorta", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coarctation-of-aorta" }, { "slug": "aortic-valve-stenosis", "name": "Narrowing of aortic valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/aortic-valve-stenosis" }, { "slug": "choanal-stenosis", "name": "Narrowing of the rear opening of the nasal cavity", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/choanal-stenosis" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "neurodevelopmental-delay", "name": "Neurodevelopmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/neurodevelopmental-delay" }, { "slug": "coloboma", "name": "Notched pupil", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/coloboma" }, { "slug": "obesity", "name": "Obesity", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/obesity" }, { "slug": "optic-disc-coloboma", "name": "Optic disc coloboma", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-disc-coloboma" }, { "slug": "optic-nerve-hypoplasia", "name": "Optic nerve hypoplasia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/optic-nerve-hypoplasia" }, { "slug": "overfolded-helix", "name": "Overfolded ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/overfolded-helix" }, { "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": "patent-foramen-ovale", "name": "Patent foramen ovale", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/patent-foramen-ovale" }, { "slug": "peters-anomaly", "name": "Peters anomaly", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peters-anomaly" }, { "slug": "pilomatrixoma", "name": "Pilomatrixoma", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pilomatrixoma" }, { "slug": "preauricular-pit", "name": "Pit in front of the ear", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/preauricular-pit" }, { "slug": "nail-dystrophy", "name": "Poor nail formation", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nail-dystrophy" }, { "slug": "premature-thelarche", "name": "Premature breast development", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/premature-thelarche" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "proboscis", "name": "Proboscis", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proboscis" }, { "slug": "progressive-sensorineural-hearing-impairment", "name": "Progressive sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/progressive-sensorineural-hearing-impairment" }, { "slug": "prolonged-neonatal-jaundice", "name": "Prolonged yellowing of skin in newborn", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice" }, { "slug": "protruding-ear", "name": "Prominent ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/protruding-ear" }, { "slug": "prominent-eyelashes", "name": "Prominent eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/prominent-eyelashes" }, { "slug": "prominent-fingertip-pads", "name": "Prominent fingertip pads", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-fingertip-pads" }, { "slug": "prominent-forehead", "name": "Prominent forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "retrognathia", "name": "Receding chin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/retrognathia" }, { "slug": "recurrent-aspiration-pneumonia", "name": "Recurrent aspiration pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/recurrent-aspiration-pneumonia" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-infections" }, { "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": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "reduced-circulating-growth-hormone-concentration", "name": "Reduced circulating growth hormone concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-circulating-growth-hormone-concentration" }, { "slug": "renal-insufficiency", "name": "Renal failure", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-insufficiency" }, { "slug": "right-ventricular-hypertrophy", "name": "Right ventricular hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/right-ventricular-hypertrophy" }, { "slug": "scimitar-anomaly", "name": "Scimitar anomaly", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/scimitar-anomaly" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "severe-sensorineural-hearing-impairment", "name": "Severe sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/severe-sensorineural-hearing-impairment" }, { "slug": "severe-short-stature", "name": "Severe short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-short-stature" }, { "slug": "short-5th-finger", "name": "Short 5th finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-5th-finger" }, { "slug": "short-columella", "name": "Short columella", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-columella" }, { "slug": "brachydactyly", "name": "Short fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/brachydactyly" }, { "slug": "short-middle-phalanx-of-finger", "name": "Short middle bone of finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-middle-phalanx-of-finger" }, { "slug": "short-nose", "name": "Short nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-nose" }, { "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": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "single-transverse-palmar-crease", "name": "Single transverse palmar crease", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/single-transverse-palmar-crease" }, { "slug": "preauricular-skin-tag", "name": "Skin tag in front of the ear", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/preauricular-skin-tag" }, { "slug": "microtia", "name": "Small ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microtia" }, { "slug": "small-hand", "name": "Small hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/small-hand" }, { "slug": "small-nail", "name": "Small nail", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/small-nail" }, { "slug": "hypoplastic-nipples", "name": "Small nipples", "systems": [ "abnormality-of-the-breast" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplastic-nipples" }, { "slug": "thyroid-hypoplasia", "name": "Small thyroid gland", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thyroid-hypoplasia" }, { "slug": "smooth-philtrum", "name": "Smooth philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/smooth-philtrum" }, { "slug": "sparse-eyebrow", "name": "Sparse eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sparse-eyebrow" }, { "slug": "sparse-hair", "name": "Sparse hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sparse-hair" }, { "slug": "sacral-dimple", "name": "Spinal dimple", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sacral-dimple" }, { "slug": "subpleural-honeycombing", "name": "Subpleural honeycombing", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/subpleural-honeycombing" }, { "slug": "tented-upper-lip-vermilion", "name": "Tented mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tented-upper-lip-vermilion" }, { "slug": "thin-upper-lip-vermilion", "name": "Thin red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion" }, { "slug": "thoracic-scoliosis", "name": "Thoracic scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thoracic-scoliosis" }, { "slug": "ankyloglossia", "name": "Tongue tied", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ankyloglossia" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "type-ii-pneumocyte-hyperplasia", "name": "Type II pneumocyte hyperplasia", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/type-ii-pneumocyte-hyperplasia" }, { "slug": "unconjugated-hyperbilirubinemia", "name": "Unconjugated hyperbilirubinemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/unconjugated-hyperbilirubinemia" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "congenital-hypothyroidism", "name": "Underactive thyroid gland from birth", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/congenital-hypothyroidism" }, { "slug": "hypoplastic-left-ventricle", "name": "Underdeveloped left heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypoplastic-left-ventricle" }, { "slug": "hypoplasia-of-penis", "name": "Underdeveloped penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-penis" }, { "slug": "underdeveloped-nasal-alae", "name": "Underdeveloped tissue around nostril", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/underdeveloped-nasal-alae" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "unusual-bronchiolitis", "name": "Unusual bronchiolitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/unusual-bronchiolitis" }, { "slug": "ureteropelvic-junction-obstruction", "name": "Ureteropelvic junction obstruction", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ureteropelvic-junction-obstruction" }, { "slug": "abnormality-of-the-urinary-system", "name": "Urinary tract abnormalities", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-urinary-system" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "vertebral-clefting", "name": "Vertebral clefting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/vertebral-clefting" }, { "slug": "weak-cry", "name": "Weak cry", "systems": [ "abnormality-of-the-voice" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/weak-cry" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/wide-nasal-bridge" }, { "slug": "wide-nose", "name": "Wide nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/wide-nose" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "widely-spaced-teeth", "name": "Widely spaced teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/widely-spaced-teeth" } ], "related": [ { "slug": "kdm6a", "symbol": "KDM6A", "name": "lysine demethylase 6A", "shared": 1, "url": "https://dantelabs.com/fi/genes/kdm6a" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }