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"ensemblId": "ENSG00000167123", "biotype": "protein_coding", "start": 128411575, "end": 128437362, "strand": "+", "slug": "cercam" }, { "symbol": "ODF2", "ensemblId": "ENSG00000136811", "biotype": "protein_coding", "start": 128455181, "end": 128502162, "strand": "+", "slug": "odf2" }, { "symbol": "GLE1", "ensemblId": "ENSG00000119392", "biotype": "protein_coding", "start": 128504655, "end": 128543874, "strand": "+", "slug": "gle1" }, { "symbol": "SPTAN1", "ensemblId": "ENSG00000197694", "biotype": "protein_coding", "start": 128552558, "end": 128633663, "strand": "+", "slug": "sptan1" }, { "symbol": "DYNC2I2", "ensemblId": "ENSG00000119333", "biotype": "protein_coding", "start": 128633646, "end": 128656847, "strand": "-", "slug": "dync2i2" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "craniofacial-dystonia", "name": "Abnormal craniofacial muscle tone", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/craniofacial-dystonia" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "axial-dystonia", "name": "Axial dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/axial-dystonia" }, { "slug": "cerebral-cortical-atrophy", "name": "Decrease in size of the outer layer of the brain due to loss of brain cells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "focal-dystonia", "name": "Focal dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-dystonia" }, { "slug": "head-tremor", "name": "Head tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/head-tremor" }, { "slug": "dysphonia", "name": "Inability to produce voice sounds", "systems": [ "abnormality-of-the-voice" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysphonia" }, { "slug": "neck-muscle-hypertrophy", "name": "Increased size of neck muscles", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neck-muscle-hypertrophy" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "limb-tremor", "name": "Limb tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limb-tremor" }, { "slug": "panic-attack", "name": "Panic attack", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/panic-attack" }, { "slug": "hyperventilation", "name": "Rapid breathing", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperventilation" }, { "slug": "supraventricular-arrhythmia", "name": "Supraventricular arrhythmia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/supraventricular-arrhythmia" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unsteady-gait" }, { "slug": "writer-s-cramp", "name": "Writer's cramp", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/writer-s-cramp" }, { "slug": "torticollis", "name": "Wry neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/torticollis" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }