Phenotype #0000351840

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466477
Associated disease	NMD
Diagnosis/Initial	neuromuscular disorder
Diagnosis/Definite	MPXPS
Phenotype details	see paper; ..., delayed motor-speech development; 11m-seizure; markedly elevated CK (above 5000 U/L), EMG primary myopathy, minimal biopsy changes, MRI normal, bilateral moderate visual impairment
Inheritance	Familial, autosomal recessive
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-09-08 13:09:59 +02:00 (CEST)
Date last edited	N/A

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