Phenotype #0000142761

Individual ID 00180368
Associated disease PMD;HLD1
Phenotype details severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; no pyramidal signs; strider; auditory brain response only I-III waves; MRI delayed myelination
Diagnosis/Initial connatal Pelizaeus-Merzbacher disease
Inheritance Isolated (sporadic)
Diagnosis/Definite PMD
Age/Examination 1y (1 year)
Age/Diagnosis -
Age/Onset 1d
Phenotype/Onset asphyxia
Protein -
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 2018-09-05 09:32:48 +02:00 (CEST)
Date last edited N/A

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