Phenotype #0000328689

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00438791
Associated disease	MD
Phenotype details	moderate intellectual disability; CK level 1950IU; muscle weakness; movement disorder; ; no epilepsy; MRI brain bilateral parieto-occipital corticosubcortical volume decrease with prominence cerebellar folia, thin corpus callosum
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR18
Age/Examination	5y-8y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-24 15:32:51 +02:00 (CEST)
Date last edited	N/A

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