{ "url": "https://dantelabs.com/nl/genes/idua", "gene": { "slug": "idua", "symbol": "IDUA", "name": "alpha-L-iduronidase", "hgnc": "HGNC:5391", "summary": null, "location": "4p16.3", "locusType": "gene with protein product", "aliases": [ "MPS1", "MPSI" ], "previousSymbols": [], "ensemblId": "ENSG00000127415", "entrezId": 3425, "omim": [ "252800" ], "uniprot": [ "P35475" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "4", "start": 987044, "end": 1004564, "strand": "+", "ensemblTranscript": "ENST00000514224.2", "refseqTranscript": "NM_000203.5", "ensemblProtein": "ENSP00000425081.2", "refseqProtein": "NP_000194.2", "exons": [ { "start": 987044, "end": 987242 }, { "start": 987809, "end": 987949 }, { "start": 1000612, "end": 1000697 }, { "start": 1000882, "end": 1000989 }, { "start": 1001468, "end": 1001563 }, { "start": 1001679, "end": 1001881 }, { "start": 1001982, "end": 1002161 }, { "start": 1002269, "end": 1002485 }, { "start": 1002732, "end": 1002944 }, { "start": 1003036, "end": 1003157 }, { "start": 1003345, "end": 1003470 }, { "start": 1003549, "end": 1003625 }, { "start": 1004012, "end": 1004112 }, { "start": 1004260, "end": 1004564 } ], "cds": { "start": 987085, "end": 1004393 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "4", "start": 980785, "end": 998316, "strand": "+" }, "neighbourhood": { "release": "116", "start": 495804, "end": 1495803, "genes": [ { "symbol": "ZNF721", "ensemblId": "ENSG00000182903", "biotype": "protein_coding", "start": 391179, "end": 499159, "strand": "-", "slug": "znf721" }, { "symbol": "PIGG", "ensemblId": "ENSG00000174227", "biotype": "protein_coding", "start": 499195, "end": 541173, "strand": "+", "slug": "pigg" }, { "symbol": "TMEM271", "ensemblId": "ENSG00000273238", "biotype": "protein_coding", "start": 573880, "end": 576295, "strand": "-", "slug": "tmem271" }, { "symbol": "PDE6B", "ensemblId": "ENSG00000133256", "biotype": "protein_coding", "start": 625559, "end": 670782, "strand": "+", "slug": "pde6b" }, { "symbol": "ATP5ME", "ensemblId": "ENSG00000169020", "biotype": "protein_coding", "start": 672423, "end": 674400, "strand": "-", "slug": "atp5me" }, { "symbol": "MYL5", "ensemblId": "ENSG00000215375", "biotype": "protein_coding", "start": 673519, "end": 682033, "strand": "+", "slug": "myl5" }, { "symbol": "SLC49A3", "ensemblId": "ENSG00000169026", "biotype": "protein_coding", "start": 681824, "end": 689548, "strand": "-", "slug": "slc49a3" }, { "symbol": "PCGF3", "ensemblId": "ENSG00000185619", "biotype": "protein_coding", "start": 705748, "end": 770089, "strand": "+", "slug": "pcgf3" }, { "symbol": "CPLX1", "ensemblId": "ENSG00000168993", "biotype": "protein_coding", "start": 784957, "end": 827043, "strand": "-", "slug": "cplx1" }, { "symbol": "GAK", "ensemblId": "ENSG00000178950", "biotype": "protein_coding", "start": 849275, "end": 932411, "strand": "-", "slug": "gak" }, { "symbol": "TMEM175", "ensemblId": "ENSG00000127419", "biotype": "protein_coding", "start": 932153, "end": 958989, "strand": "+", "slug": "tmem175" }, { "symbol": "DGKQ", "ensemblId": "ENSG00000145214", "biotype": "protein_coding", "start": 958884, "end": 986895, "strand": "-", "slug": "dgkq" }, { "symbol": "SLC26A1", "ensemblId": "ENSG00000145217", "biotype": "protein_coding", "start": 978992, "end": 997659, "strand": "-", "slug": "slc26a1" }, { "symbol": "FGFRL1", "ensemblId": "ENSG00000127418", "biotype": "protein_coding", "start": 1008649, "end": 1026901, "strand": "+", "slug": "fgfrl1" }, { "symbol": "RNF212", "ensemblId": "ENSG00000178222", "biotype": "protein_coding", "start": 1056247, "end": 1113697, "strand": "-", "slug": "rnf212" }, { "symbol": "SPON2", "ensemblId": "ENSG00000159674", "biotype": "protein_coding", "start": 1166928, "end": 1208962, "strand": "-", "slug": "spon2" }, { "symbol": "CTBP1", "ensemblId": "ENSG00000159692", "biotype": "protein_coding", "start": 1211434, "end": 1250333, "strand": "-", "slug": "ctbp1" }, { "symbol": "MAEA", "ensemblId": "ENSG00000090316", "biotype": "protein_coding", "start": 1289839, "end": 1340148, "strand": "+", "slug": "maea" }, { "symbol": "UVSSA", "ensemblId": "ENSG00000163945", "biotype": "protein_coding", "start": 1345691, "end": 1395989, "strand": "+", "slug": "uvssa" }, { "symbol": "NKX1-1", "ensemblId": "ENSG00000235608", "biotype": "protein_coding", "start": 1402932, "end": 1406442, "strand": "-", "slug": "nkx1-1" } ], "truncated": false }, "reports": [ { "slug": "mucopolysaccharidosis-type-1", "name": "Mucopolysaccharidose type I (ziekte van Hurler en van Scheie)", "diseases": [ { "mondoId": "MONDO:0001586", "name": "Mucopolysaccharidose type I (ziekte van Hurler, Hurler-Scheie en Scheie)", "genes": 1, "inheritance": "autosomal-recessive", "description": "Een tekort aan alfa-L-iduronidase zorgt ervoor dat glycosaminoglycanen zich opstapelen, wat kan leiden tot grove gelaatskenmerken, skeletafwijkingen, stijve gewrichten, troebeling van het hoornvlies, hartklepziekte en, bij de ziekte van Hurler, achteruitgang in de ontwikkeling.", "management": "Vroege diagnose maakt een hematopoëtische stamceltransplantatie mogelijk bij de ernstige ziekte van Hurler, en enzymvervangingstherapie (laronidase) voor alle vormen; MPS I is in sommige neonatale screeningsprogramma's opgenomen.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 8 }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/mucopolysaccharidosis-type-1" }, { "slug": "lysosomal-storage-disease", "name": "Lysosomale opslagziekte", "diseases": [ { "mondoId": "MONDO:0002561", "name": "Lysosomale stapelingsziekte (overige en niet-gespecificeerde typen)", "genes": 59, "inheritance": null, "description": "Behandelt lysosomale stapelingsziekten zonder eigen rapport, zoals de ziekte van Farber en andere ASAH1-gerelateerde aandoeningen, prosaposine (PSAP)-deficiënties, meervoudige sulfatase-deficiëntie, mucopolysaccharidose type IX en X, en de ziekte van Dorfman-Chanarin; de overerving verschilt per subtype en is meestal autosomaal recessief.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 8 }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/nl/conditions/lysosomal-storage-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cns-myelination", "name": "Abnormal CNS myelination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-cns-myelination" }, { "slug": "abnormal-clavicle-morphology", "name": "Abnormal collarbone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-clavicle-morphology" }, { "slug": "abnormal-heart-valve-morphology", "name": "Abnormal heart valve morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-heart-valve-morphology" }, { "slug": "abnormal-nerve-conduction-velocity", "name": "Abnormal nerve conduction velocity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-nerve-conduction-velocity" }, { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "abnormal-epiphysis-morphology", "name": "Abnormal shape of end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology" }, { "slug": "abnormal-diaphysis-morphology", "name": "Abnormal shape of shaft of long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-diaphysis-morphology" }, { "slug": "skeletal-dysplasia", "name": "Abnormal skeletal development", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skeletal-dysplasia" }, { "slug": "abnormal-skin-pigmentation", "name": "Abnormal skin pigmentation", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation" }, { "slug": "abnormal-vertebral-morphology", "name": "Abnormal vertebral morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-vertebral-morphology" }, { "slug": "abnormality-of-the-elbow", "name": "Abnormality of the elbow", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-elbow" }, { "slug": "abnormal-rib-morphology", "name": "Abnormality of the ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-rib-morphology" }, { "slug": "abnormality-of-the-skeletal-system", "name": "Abnormality of the skeletal system", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system" }, { "slug": "abnormality-of-the-tonsils", "name": "Abnormality of the tonsils", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-tonsils" }, { "slug": "macroglossia", "name": "Abnormally large tongue", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macroglossia" }, { "slug": "angina-pectoris", "name": "Angina pectoris", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/angina-pectoris" }, { "slug": "aortic-regurgitation", "name": "Aortic regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/aortic-regurgitation" }, { "slug": "protuberant-abdomen", "name": "Belly sticks out", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/protuberant-abdomen" }, { "slug": "biconcave-vertebral-bodies", "name": "Biconcave vertebral bodies", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/biconcave-vertebral-bodies" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "mandibular-prognathia", "name": "Big lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "broad-face", "name": "Broad face", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/broad-face" }, { "slug": "broad-nasal-tip", "name": "Broad nasal tip", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/broad-nasal-tip" }, { "slug": "metaphyseal-widening", "name": "Broad wide portion of long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/metaphyseal-widening" }, { "slug": "c1-c2-subluxation", "name": "C1-C2 subluxation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/c1-c2-subluxation" }, { "slug": "cerebral-palsy", "name": "Cerebral palsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cerebral-palsy" }, { "slug": "cervical-cord-compression", "name": "Cervical cord compression", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cervical-cord-compression" }, { "slug": "chronic-diarrhea", "name": "Chronic diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-diarrhea" }, { "slug": "coarse-facial-features", "name": "Coarse facial features", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/coarse-facial-features" }, { "slug": "constrictive-median-neuropathy", "name": "Constrictive median neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/constrictive-median-neuropathy" }, { "slug": "contracture-of-the-distal-interphalangeal-joint-of-the-fingers", "name": "Contracture of the distal interphalangeal joint of the fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/contracture-of-the-distal-interphalangeal-joint-of-the-fingers" }, { "slug": "corneal-opacity", "name": "Corneal opacity", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/corneal-opacity" }, { "slug": "coxa-valga", "name": "Coxa valga", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/coxa-valga" }, { "slug": "microdontia", "name": "Decreased size of tooth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/microdontia" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depression" }, { "slug": "dermatan-sulfate-excretion-in-urine", "name": "Dermatan sulfate excretion in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dermatan-sulfate-excretion-in-urine" }, { "slug": "sleep-disturbance", "name": "Difficulty sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sleep-disturbance" }, { "slug": "diminished-tissue-alpha-l-iduronidase-activity", "name": "Diminished tissue alpha-L-iduronidase activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/diminished-tissue-alpha-l-iduronidase-activity" }, { "slug": "cardiomyopathy", "name": "Disease of the heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cardiomyopathy" }, { "slug": "spondylolisthesis", "name": "Displacement of one backbone compared to another", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/spondylolisthesis" }, { "slug": "everted-lower-lip-vermilion", "name": "Drooping lower lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/everted-lower-lip-vermilion" }, { "slug": "bilateral-ptosis", "name": "Drooping of both upper eyelids", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-ptosis" }, { "slug": "dysostosis-multiplex", "name": "Dysostosis multiplex", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysostosis-multiplex" }, { "slug": "endocardial-fibroelastosis", "name": "Endocardial fibroelastosis", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/endocardial-fibroelastosis" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "hepatosplenomegaly", "name": "Enlarged liver and spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "enlarged-tonsils", "name": "Enlarged tonsils", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/enlarged-tonsils" }, { "slug": "cranial-hyperostosis", "name": "Enlargement of skull bones", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cranial-hyperostosis" }, { "slug": "hirsutism", "name": "Excessive hairiness", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/hirsutism" }, { "slug": "generalized-hirsutism", "name": "Excessive hairiness over body", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/generalized-hirsutism" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "flared-iliac-wing", "name": "Flared iliac wing", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/flared-iliac-wing" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "full-cheeks", "name": "Full cheeks", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/full-cheeks" }, { "slug": "thick-vermilion-border", "name": "Full lips", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thick-vermilion-border" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/glaucoma" }, { "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": "gingival-overgrowth", "name": "Gum enlargement", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/gingival-overgrowth" }, { "slug": "hand-pain", "name": "Hand pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hand-pain" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "heparan-sulfate-excretion-in-urine", "name": "Heparan sulfate excretion in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/heparan-sulfate-excretion-in-urine" }, { "slug": "hernia", "name": "Hernia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hernia" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "hypoplasia-of-the-odontoid-process", "name": "Hypoplasia of the odontoid process", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-odontoid-process" }, { "slug": "pulmonary-arterial-hypertension", "name": "Increased blood pressure in blood vessels of lungs", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "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": "very-frequent", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "inguinal-hernia", "name": "Inguinal hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/inguinal-hernia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "j-shaped-sella-turcica", "name": "J-shaped sella turcica", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/j-shaped-sella-turcica" }, { "slug": "joint-stiffness", "name": "Joint stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-stiffness" }, { "slug": "genu-valgum", "name": "Knock knees", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/genu-valgum" }, { "slug": "large-face", "name": "Large face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/large-face" }, { "slug": "limitation-of-joint-mobility", "name": "Limitation of joint mobility", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/limitation-of-joint-mobility" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "dolichocephaly", "name": "Long, narrow head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dolichocephaly" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "mitral-regurgitation", "name": "Mitral regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/mitral-regurgitation" }, { "slug": "mitral-stenosis", "name": "Mitral stenosis", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mitral-stenosis" }, { "slug": "mongolian-blue-spot", "name": "Mongolian blue spot", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mongolian-blue-spot" }, { "slug": "mucopolysacchariduria", "name": "Mucopolysacchariduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/mucopolysacchariduria" }, { "slug": "narrow-pelvis-bone", "name": "Narrow pelvis bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-pelvis-bone" }, { "slug": "spinal-canal-stenosis", "name": "Narrow spinal canal", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spinal-canal-stenosis" }, { "slug": "aortic-valve-stenosis", "name": "Narrowing of aortic valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/aortic-valve-stenosis" }, { "slug": "tracheal-stenosis", "name": "Narrowing of windpipe", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/tracheal-stenosis" }, { "slug": "rhinitis", "name": "Nasal inflammation", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/rhinitis" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "retinopathy", "name": "Noninflammatory retina disease", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retinopathy" }, { "slug": "obstructive-sleep-apnea", "name": "Obstructive sleep apnea", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/obstructive-sleep-apnea" }, { "slug": "neurodegeneration", "name": "Ongoing loss of nerve cells", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/neurodegeneration" }, { "slug": "opacification-of-the-corneal-stroma", "name": "Opacification of the corneal stroma", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma" }, { "slug": "calvarial-hyperostosis", "name": "Overgrowth of skullcap", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/calvarial-hyperostosis" }, { "slug": "camptodactyly-of-finger", "name": "Permanent flexion of the finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/camptodactyly-of-finger" }, { "slug": "recurrent-otitis-media", "name": "Recurrent middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "obligate", "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": "frequent", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "retinal-degeneration", "name": "Retina degeneration", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-degeneration" }, { "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": "frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "short-clavicles", "name": "Short collarbone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/short-clavicles" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "hypoplasia-of-the-femoral-head", "name": "Small head of thigh bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-femoral-head" }, { "slug": "spastic-paraparesis", "name": "Spastic paraparesis", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spastic-paraparesis" }, { "slug": "thenar-muscle-atrophy", "name": "Thenar muscle atrophy", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], 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