Phenotype #0000142763

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00180370
Associated disease	PMD;HLD1
Phenotype details	severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; no pyramidal signs; seizures; microcephaly; auditory brain response only I wave; MRI delayed myelination
Diagnosis/Initial	connatal Pelizaeus-Merzbacher disease
Inheritance	Isolated (sporadic)
Diagnosis/Definite	PMD
Age/Examination	4m
Age/Diagnosis	-
Age/Onset	1m
Phenotype/Onset	microcephaly (-3.2SD)
Protein	-
Owner name	Johan den Dunnen
Database submission 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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