Phenotype #0000233446

Individual ID 00308020
Associated disease ?
Diagnosis/Initial slowly progressive leukoencephalopathy
Diagnosis/Definite RPIAD
Phenotype details see paper; ..., developmental delay; speech delay; epilepsy; regression; dysarthria; no nystagmus; no ataxia; spasticity; increased urine polyol levels; retinitis pigmentosa; cerebral white matter abnormalities; increased polyol levels magnetic resonance spectroscopy; unilateral sensorineural hearing loss; EEG asymmetric background slowing, independent epileptiform activity; normal nerve conduction velocity
Inheritance Familial, autosomal recessive
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset 00y06m
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 17:41:45 +02:00 (CEST)
Date last edited N/A

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