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40939081, "strand": "+", "slug": "dll4" }, { "symbol": "CHAC1", "ensemblId": "ENSG00000128965", "biotype": "protein_coding", "start": 40952962, "end": 40957478, "strand": "+", "slug": "chac1" }, { "symbol": "INO80", "ensemblId": "ENSG00000128908", "biotype": "protein_coding", "start": 40978880, "end": 41116568, "strand": "-", "slug": "ino80" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cortical-bone-morphology", "name": "Abnormal cortical bone morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cortical-bone-morphology" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "unilateral-renal-agenesis", "name": "Absent kidney on one side", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unilateral-renal-agenesis" }, { "slug": "agenesis-of-corpus-callosum", "name": "Agenesis of corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "cerebellar-vermis-hypoplasia", "name": "Cerebellar vermis hypoplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "pachygyria", "name": "Fewer and broader ridges in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pachygyria" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "gray-matter-heterotopia", "name": "Gray matter heterotopia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gray-matter-heterotopia" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "bimanual-synkinesia", "name": "Hand mirror movements", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/bimanual-synkinesia" }, { "slug": "impulsivity", "name": "Impulsivity", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/impulsivity" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "low-hanging-columella", "name": "Low hanging columella", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/low-hanging-columella" }, { "slug": "synophrys", "name": "Monobrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/synophrys" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "sloping-forehead", "name": "Sloping forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sloping-forehead" }, { "slug": "primary-microcephaly", "name": "Small head present at birth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/primary-microcephaly" }, { "slug": "thick-eyebrow", "name": "Thick eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thick-eyebrow" }, { "slug": "thin-upper-lip-vermilion", "name": "Thin red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion" }, { "slug": "hypoplasia-of-the-frontal-lobes", "name": "Underdeveloped frontal lobe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-frontal-lobes" }, { "slug": "upslanted-palpebral-fissure", "name": "Upward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "vesicoureteral-reflux", "name": "Vesicoureteral reflux", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vesicoureteral-reflux" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }