Global Variome shared LOVD

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Phenotype #0000233444 Individual ID 00226142 Associated disease RPIAD Phenotype details 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 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Anju Shukla Database submission license No license selected Created by Johan den Dunnen Date created 2020-08-25 17:20:35 +02:00 (CEST) Date last edited N/A

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