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"management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/cs/conditions/dystonia-myotonia-paroxysmal-dyskinesia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-extrapyramidal-motor-function", "name": "Abnormality of extrapyramidal motor function", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "brisk-reflexes", "name": "Brisk reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/brisk-reflexes" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "decreased-csf-homovanillic-acid-concentration", "name": "Decreased CSF homovanillic acid concentration", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-csf-homovanillic-acid-concentration" }, { "slug": "hypokinesia", "name": "Decreased muscle movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypokinesia" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "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": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dysdiadochokinesis", "name": "Difficulty performing quick and alternating movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysdiadochokinesis" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "excessive-salivation", "name": "Excessive salivation", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/excessive-salivation" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fever" }, { "slug": "focal-dystonia", "name": "Focal dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/focal-dystonia" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "generalized-dystonia", "name": "Generalized dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-dystonia" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "hypometric-saccades", "name": "Hypometric saccades", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypometric-saccades" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "intention-tremor", "name": "Intention tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intention-tremor" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "laryngeal-dystonia", "name": "Laryngeal dystonia", "systems": [ "abnormality-of-the-nervous-system", "abnormality-of-the-voice" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/laryngeal-dystonia" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "limb-dystonia", "name": "Limb dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limb-dystonia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "night-sweats", "name": "Night sweats", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/night-sweats" }, { "slug": "oculogyric-crisis", "name": "Oculogyric crisis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oculogyric-crisis" }, { "slug": "oromandibular-dystonia", "name": "Oromandibular dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/oromandibular-dystonia" }, { "slug": "lower-limb-hyperreflexia", "name": "Overactive lower leg reflex", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-hyperreflexia" }, { "slug": "parkinsonism", "name": "Parkinsonism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/parkinsonism" }, { "slug": "postural-tremor", "name": "Postural tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/postural-tremor" }, { "slug": "progressive-encephalopathy", "name": "Progressive brain disease", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/progressive-encephalopathy" }, { "slug": "retrocollis", "name": "Retrocollis", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retrocollis" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "slow-saccadic-eye-movements", "name": "Slow eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/slow-saccadic-eye-movements" }, { "slug": "bradykinesia", "name": "Slow movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bradykinesia" }, { "slug": "upper-limb-postural-tremor", "name": "Upper limb postural tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/upper-limb-postural-tremor" }, { "slug": "torticollis", "name": "Wry neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/torticollis" } ], "related": [ { "slug": "actb", "symbol": "ACTB", "name": "actin beta", "shared": 1, "url": "https://dantelabs.com/cs/genes/actb" }, { "slug": "ano3", "symbol": "ANO3", "name": "anoctamin 3", "shared": 1, "url": "https://dantelabs.com/cs/genes/ano3" }, { "slug": "arfgef3", "symbol": "ARFGEF3", "name": "ARFGEF family member 3", "shared": 1, "url": "https://dantelabs.com/cs/genes/arfgef3" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/cs/genes/atp1a3" }, { "slug": "bcap31", "symbol": "BCAP31", "name": "B cell receptor associated protein 31", "shared": 1, "url": "https://dantelabs.com/cs/genes/bcap31" }, { "slug": "col6a3", "symbol": "COL6A3", "name": "collagen type VI alpha 3 chain", "shared": 1, "url": "https://dantelabs.com/cs/genes/col6a3" }, { "slug": "dcaf17", "symbol": "DCAF17", "name": "DDB1 and CUL4 associated factor 17", "shared": 1, "url": "https://dantelabs.com/cs/genes/dcaf17" }, { "slug": "gch1", "symbol": "GCH1", "name": "GTP cyclohydrolase 1", "shared": 1, "url": "https://dantelabs.com/cs/genes/gch1" }, { "slug": "gnal", "symbol": "GNAL", "name": "G protein subunit alpha L", "shared": 1, "url": "https://dantelabs.com/cs/genes/gnal" }, { "slug": "hpca", "symbol": "HPCA", "name": "hippocalcin", "shared": 1, "url": "https://dantelabs.com/cs/genes/hpca" }, { "slug": "kcnj10", "symbol": "KCNJ10", "name": "potassium inwardly rectifying channel subfamily J member 10", "shared": 1, "url": "https://dantelabs.com/cs/genes/kcnj10" }, { "slug": "kctd17", "symbol": "KCTD17", "name": "potassium channel tetramerization domain containing 17", "shared": 1, "url": "https://dantelabs.com/cs/genes/kctd17" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }