Phenotype #0000352236

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466872
Associated disease	MYOP
Phenotype details	see paper; ..., normal intellectual development, normal motor development, no clinical manifestations, normal neurological examination, normal liver function, normal muscle enzyme profiles
Diagnosis/Initial	asymptomatic
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	01y06m (1 year, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-09-26 12:14:16 +02:00 (CEST)
Date last edited	2025-09-26 13:18:28 +02:00 (CEST)

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