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null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/dystonia-myotonia-paroxysmal-dyskinesia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "craniofacial-dystonia", "name": "Abnormal craniofacial muscle tone", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/craniofacial-dystonia" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": 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"https://dantelabs.com/traits/anxiety" }, { "slug": "arm-dystonia", "name": "Arm dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arm-dystonia" }, { "slug": "astigmatism", "name": "Astigmatism", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/astigmatism" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "broad-hallux", "name": "Broad big toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/broad-hallux" }, { "slug": "bulbous-nose", "name": "Bulbous nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bulbous-nose" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "clinodactyly-of-the-5th-finger", "name": "Curvature of little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger" }, { "slug": "deeply-set-eye", "name": "Deeply set eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/deeply-set-eye" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depression" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "precocious-puberty", "name": "Early onset of puberty", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/precocious-puberty" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "hypermetropia", "name": "Farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypermetropia" }, { "slug": "hepatic-steatosis", "name": "Fatty infiltration of liver", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatic-steatosis" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "full-cheeks", "name": "Full cheeks", "systems": [ "abnormality-of-head-or-neck" 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"https://dantelabs.com/traits/globus-pallidus-hypointensity-on-susceptibility-weighted-imaging" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "dysphonia", "name": "Inability to produce voice sounds", "systems": [ "abnormality-of-the-voice" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysphonia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "inverted-nipples", "name": "Inverted nipples", "systems": [ "abnormality-of-the-breast" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/inverted-nipples" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "joint-contracture-of-the-5th-finger", "name": "Joint contracture of the 5th finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-contracture-of-the-5th-finger" }, { "slug": "laryngeal-dystonia", "name": "Laryngeal dystonia", "systems": [ "abnormality-of-the-nervous-system", "abnormality-of-the-voice" ], "url": "https://dantelabs.com/traits/laryngeal-dystonia" }, { "slug": "leg-dystonia", "name": "Leg dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/leg-dystonia" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-face" }, { "slug": "anarthria", "name": "Loss of articulate speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anarthria" }, { "slug": "urinary-incontinence", "name": "Loss of bladder control", "systems": [ "abnormality-of-the-genitourinary-system", "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/urinary-incontinence" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "narrow-palm", "name": "Narrow palm", "systems": [ "abnormality-of-limbs" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-palm" }, { "slug": "neurodevelopmental-delay", "name": "Neurodevelopmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neurodevelopmental-delay" }, { "slug": "oromandibular-dystonia", "name": "Oromandibular dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oromandibular-dystonia" }, { "slug": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/patent-ductus-arteriosus" }, { "slug": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/poor-speech" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "retrognathia", "name": "Receding chin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retrognathia" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-infections" }, { "slug": "retrocollis", "name": "Retrocollis", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/retrocollis" }, { "slug": "severe-global-developmental-delay", "name": "Severe global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-global-developmental-delay" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "sparse-hair", "name": "Sparse hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sparse-hair" }, { "slug": "tip-toe-gait", "name": "Toe walking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/tip-toe-gait" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "2-3-toe-syndactyly", "name": "Webbed 2nd and 3rd toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/2-3-toe-syndactyly" }, { "slug": "wide-mouth", "name": "Wide mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/wide-mouth" }, { "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": [ { "slug": "actb", "symbol": "ACTB", "name": "actin beta", "shared": 1, "url": "https://dantelabs.com/hu/genes/actb" }, { "slug": "ano3", "symbol": "ANO3", "name": "anoctamin 3", "shared": 1, "url": "https://dantelabs.com/hu/genes/ano3" }, { "slug": "arfgef3", "symbol": "ARFGEF3", "name": "ARFGEF family member 3", "shared": 1, "url": "https://dantelabs.com/hu/genes/arfgef3" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/hu/genes/atp1a3" }, { "slug": "bcap31", "symbol": "BCAP31", "name": "B cell receptor associated protein 31", "shared": 1, "url": "https://dantelabs.com/hu/genes/bcap31" }, { "slug": "col6a3", "symbol": "COL6A3", "name": "collagen type VI alpha 3 chain", "shared": 1, "url": "https://dantelabs.com/hu/genes/col6a3" }, { "slug": "dcaf17", "symbol": "DCAF17", "name": "DDB1 and CUL4 associated factor 17", "shared": 1, "url": "https://dantelabs.com/hu/genes/dcaf17" }, { "slug": "gch1", "symbol": "GCH1", "name": "GTP cyclohydrolase 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/gch1" }, { "slug": "gnal", "symbol": "GNAL", "name": "G protein subunit alpha L", "shared": 1, "url": "https://dantelabs.com/hu/genes/gnal" }, { "slug": "hpca", "symbol": "HPCA", "name": "hippocalcin", "shared": 1, "url": "https://dantelabs.com/hu/genes/hpca" }, { "slug": "kcnj10", "symbol": "KCNJ10", "name": "potassium inwardly rectifying channel subfamily J member 10", "shared": 1, "url": "https://dantelabs.com/hu/genes/kcnj10" }, { "slug": "kctd17", "symbol": "KCTD17", "name": "potassium channel tetramerization domain containing 17", "shared": 1, "url": "https://dantelabs.com/hu/genes/kctd17" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }