Phenotype #0000223751

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00296276
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	see paper; ..., deceased;; axial hypotonia; limb hypertonia; 12m-refractory focal seizures, later development of epileptic spasms; mild-moderate developmental delay to one year, then regression; MRI brain marked reduction of white matter volume, delayed myelination, thin corpus callosum (17m);
Inheritance	Familial, autosomal recessive
Age/Examination	3y3m (3 years, 3 months)
Age/Diagnosis	-
Age/Onset	10m
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-04 18:08:55 +02:00 (CEST)
Date last edited	N/A