Phenotype #0000233445

Individual ID 00308019
Associated disease ?
Diagnosis/Initial leukoencephalopathy, peripheral neuropathy
Diagnosis/Definite RPIAD
Phenotype details see paper; ..., developmental delay; speech delay; epilepsy; regression; dysarthria; nystagmus; ataxia; spasticity; exaggerated deep tendon reflexes; extensor plantar reflex; increased urine polyol levels; opic atrophy; cerebral white matter abnormalities; increased polyol levels magnetic resonance spectroscopy; EEG progressive background slowing and increasing epileptic activity; nerve conduction velocity polyneuropathy
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-08-25 17:27:21 +02:00 (CEST)
Date last edited N/A

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