Phenotype #0000228795

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00301697
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	hyperekplexia and global developmental delay. MRI shown agenesis of corpus collosum with associated with mild ventricular dilatation, mild atrophic changes, minimally simplified gyral pattern with prominence of sulci, mild posterior colpocephaly. High lactate peak by MRS. There is history of a similarly affected brother who died at 2 months of age.
Inheritance	Familial, autosomal recessive
Age/Examination	13m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-22 17:20:34 +02:00 (CEST)
Date last edited	N/A