Phenotype #0000303057

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00410967
Associated disease	-
Phenotype details	early infantile onset epilepsy, scaphocephaly, developmental delay, central hypotonia, muscle wasting, and severe cerebellar and brainstem atrophy
Diagnosis/Initial	cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-05-31 18:45:49 +02:00 (CEST)
Date last edited	N/A

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