Phenotype #0000203969

Individual ID 00266192
Associated disease ?
Diagnosis/Initial Pelizaeus-Merzbacher (like) disease
Diagnosis/Definite -
Phenotype details 1d-nystagmus, resolved 14m; 36m-walk, delayed language development, myopia; bilateral Babinski sign, unclear pronunciation; abnormal brain-stem auditory evoked potential and visual evoked potential
Inheritance Familial, autosomal dominant
Age/Examination 4y (4 years)
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 2019-10-16 03:56:50 +02:00 (CEST)
Date last edited N/A

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