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"ensemblId": "ENSG00000277531", "biotype": "protein_coding", "start": 46424697, "end": 46428936, "strand": "-", "slug": "pnma8c" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "brachycephaly", "name": "Broad head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/brachycephaly" }, { "slug": "chiari-type-i-malformation", "name": "Chiari type I malformation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chiari-type-i-malformation" }, { "slug": "cerebral-cortical-atrophy", "name": "Decrease in size of the outer layer of the brain due to loss of brain 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"slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "bilateral-ptosis", "name": "Drooping of both upper eyelids", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bilateral-ptosis" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "high-anterior-hairline", "name": "High frontal hairline", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-anterior-hairline" }, { "slug": "inappropriate-laughter", "name": "Inappropriate laughter", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inappropriate-laughter" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "recurrent-hand-flapping", "name": "Recurrent hand flapping", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/recurrent-hand-flapping" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }