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"ensemblId": "ENSG00000215009", "biotype": "protein_coding", "start": 7304072, "end": 7328719, "strand": "+", "slug": "acsm4" }, { "symbol": "CD163L1", "ensemblId": "ENSG00000177675", "biotype": "protein_coding", "start": 7346685, "end": 7479897, "strand": "-", "slug": "cd163l1" }, { "symbol": "CD163", "ensemblId": "ENSG00000177575", "biotype": "protein_coding", "start": 7469417, "end": 7503911, "strand": "-", "slug": "cd163" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cardiovascular-system-morphology", "name": "Abnormal cardiovascular system morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology" }, { "slug": "abnormal-lung-lobation", "name": "Abnormal lung lobation", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-lung-lobation" }, { "slug": "abnormal-joint-morphology", "name": "Abnormal shape of joints", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/abnormal-joint-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": "orofacial-cleft", "name": "Cleft of the mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/orofacial-cleft" }, { "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": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "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": "joint-stiffness", "name": "Joint stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/joint-stiffness" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "camptodactyly-of-finger", "name": "Permanent flexion of the finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/camptodactyly-of-finger" }, { "slug": "prominent-nose", "name": "Prominent nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/prominent-nose" }, { "slug": "rocker-bottom-foot", "name": "Rocker bottom foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/rocker-bottom-foot" }, { "slug": "severe-global-developmental-delay", "name": "Severe global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-global-developmental-delay" }, { "slug": "severe-postnatal-growth-retardation", "name": "Severe growth delay in children", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-postnatal-growth-retardation" }, { "slug": "severe-intrauterine-growth-retardation", "name": "Severe prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/severe-intrauterine-growth-retardation" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "sloping-forehead", "name": "Sloping forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sloping-forehead" }, { "slug": "small-for-gestational-age", "name": "Small for gestational age", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/small-for-gestational-age" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventriculomegaly" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }