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682870, "strand": "+", "slug": "stub1" }, { "symbol": "JMJD8", "ensemblId": "ENSG00000161999", "biotype": "protein_coding", "start": 681666, "end": 684528, "strand": "-", "slug": "jmjd8" }, { "symbol": "WDR24", "ensemblId": "ENSG00000127580", "biotype": "protein_coding", "start": 684614, "end": 690444, "strand": "-", "slug": "wdr24" }, { "symbol": "FBXL16", "ensemblId": "ENSG00000127585", "biotype": "protein_coding", "start": 692498, "end": 705860, "strand": "-", "slug": "fbxl16" }, { "symbol": "METRN", "ensemblId": "ENSG00000103260", "biotype": "protein_coding", "start": 715093, "end": 719796, "strand": "+", "slug": "metrn" }, { "symbol": "ANTKMT", "ensemblId": "ENSG00000103254", "biotype": "protein_coding", "start": 720581, "end": 722590, "strand": "+", "slug": "antkmt" }, { "symbol": "CCDC78", "ensemblId": "ENSG00000162004", "biotype": "protein_coding", "start": 722581, "end": 726954, "strand": "-", "slug": "ccdc78" }, { "symbol": "HAGHL", "ensemblId": "ENSG00000103253", "biotype": 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"reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "hip-dysplasia", "name": "Abnormal formation of the hip", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hip-dysplasia" }, { "slug": "atrial-septal-defect", "name": "An opening in the wall separating the top two chambers of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "brain-atrophy", "name": "Brain degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/brain-atrophy" }, { "slug": "proptosis", "name": "Bulging eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proptosis" }, { "slug": "cephalohematoma", "name": "Cephalohematoma", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cephalohematoma" }, { "slug": "coarse-metaphyseal-trabecularization", "name": "Coarse metaphyseal trabecularization", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/coarse-metaphyseal-trabecularization" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "ureteral-duplication", "name": "Double ureter", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/ureteral-duplication" }, { "slug": "uterus-didelphys", "name": "Double uterus", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/uterus-didelphys" }, { "slug": "ectopic-anterior-pituitary-gland", "name": "Ectopic anterior pituitary gland", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ectopic-anterior-pituitary-gland" }, { "slug": "pachygyria", "name": "Fewer and broader ridges in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pachygyria" }, { "slug": "flared-metaphysis", "name": "Flared wide portion of long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/flared-metaphysis" }, { "slug": "arachnoid-cyst", "name": "Fluid-filled sac located in membrane surrounding brain or spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arachnoid-cyst" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "hepatocellular-carcinoma", "name": "Hepatocellular carcinoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "url": "https://dantelabs.com/traits/hepatocellular-carcinoma" }, { "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": "increased-bone-mineral-density", "name": "Increased bone mineral density", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-bone-mineral-density" }, { "slug": "thickened-calvaria", "name": "Increased thickness of skull cap", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thickened-calvaria" }, { "slug": "micronodular-cirrhosis", "name": "Micronodular cirrhosis", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/micronodular-cirrhosis" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "narrow-forehead", "name": "Narrow forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-forehead" }, { "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": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/patent-ductus-arteriosus" }, { "slug": "relative-macrocephaly", "name": "Relatively large head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/relative-macrocephaly" }, { "slug": "sandwich-appearance-of-vertebral-bodies", "name": "Sandwich appearance of vertebral bodies", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sandwich-appearance-of-vertebral-bodies" }, { "slug": "selective-mutism", "name": "Selective mutism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/selective-mutism" }, { "slug": "subacute-progressive-viral-hepatitis", "name": "Subacute progressive viral hepatitis", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/subacute-progressive-viral-hepatitis" }, { "slug": "thickened-cortex-of-long-bones", "name": "Thickened cortex of long bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thickened-cortex-of-long-bones" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }