Phenotype #0000142753

Individual ID	00180359
Associated disease	PMD;HLD1
Phenotype details	nystagmus from birth; 1m-respiratory difficulty, tracheomalacia, brain stem auditory evoked response showed extremely slow conduction velocity with only waves 1 and 2 present bilaterally; 13m-MRI scan was extremely abnormal with poor myelination white matter, EMG showed no involvement peripheral nervous system; 4y-not able to sit, speak, feed himself.
Diagnosis/Initial	Pelizaeus-Merzbacher disease
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	PMD
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-09-05 08:24:39 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD