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| Dystonia - complex v0.138 | VPS13D | Zornitza Stark Marked gene: VPS13D as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.138 | VPS13D | Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.138 | VPS13D | Zornitza Stark Classified gene: VPS13D as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.138 | VPS13D | Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.137 | VPS13D |
Zornitza Stark gene: VPS13D was added gene: VPS13D was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13D were set to 29604224; 29518281 Phenotypes for gene: VPS13D were set to Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317 Review for gene: VPS13D was set to GREEN Added comment: 7 unrelated families reported and a mouse model. Most affected individuals have ataxic gait with spasticity and hyperreflexia of the lower limbs resulting in difficulty walking. The age at onset is highly variable: some have onset in early childhood with delayed walking, whereas others have onset of gait difficulties in adulthood. Additional features may include dysarthria, oculomotor abnormalities, distal sensory impairment, dystonia, chorea, hypotonia, pyramidal signs, and cerebellar atrophy on brain imaging. The disorder is slowly progressive. Some individuals with onset in childhood may have global developmental delay with mild intellectual disability. Sources: Expert list |
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