All individuals with variants in gene ZNF628

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00226142 FamPatIII1 PubMed: Shukla 2019, Journal: Shukla 2019 3-generation family, unaffected heterozygous carrier parents M - India - - 0 - - RPIAD see paper; ..., developmental delay; speech delay; epilepsy; regression; dysarthria; no nystagmus; ataxia; spasticity; exaggerated deep tendon reflexes; extensor plantar reflex; increased urine polyol levels; retinitis pigmentosa; cerebral white matter abnormalities; no hearing loss; EEG slow right frontal discharge with epileptiform activity 1 1 Anju Shukla
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