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"strand": "-", "slug": "znf232" }, { "symbol": "USP6", "ensemblId": "ENSG00000129204", "biotype": "protein_coding", "start": 5116032, "end": 5175034, "strand": "+", "slug": "usp6" }, { "symbol": "ZNF594", "ensemblId": "ENSG00000180626", "biotype": "protein_coding", "start": 5174019, "end": 5191907, "strand": "-", "slug": "znf594" }, { "symbol": "SCIMP", "ensemblId": "ENSG00000161929", "biotype": "protein_coding", "start": 5208915, "end": 5234869, "strand": "-", "slug": "scimp" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "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": "frequent", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "brain-atrophy", "name": "Brain degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/brain-atrophy" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "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": "occasional", "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "dysgyria", "name": "Dysgyria", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysgyria" }, { "slug": "exaggerated-startle-response", "name": "Exaggerated startle response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exaggerated-startle-response" }, { "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": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hydronephrosis", "name": "Hydronephrosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydronephrosis" }, { "slug": "limb-hypertonia", "name": "Increased muscle tone of arm or leg", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limb-hypertonia" }, { "slug": "inferior-cerebellar-vermis-hypoplasia", "name": "Inferior cerebellar vermis hypoplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/inferior-cerebellar-vermis-hypoplasia" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "limb-joint-contracture", "name": "Limb contractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limb-joint-contracture" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "fasciculations", "name": "Muscle twitch", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fasciculations" }, { "slug": "myoclonic-seizure", "name": "Myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myoclonic-seizure" }, { "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": "patent-foramen-ovale", "name": "Patent foramen ovale", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/patent-foramen-ovale" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cryptorchidism" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }