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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