Phenotype #0000223752

Individual ID	00296277
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	see paper; ..., axial hypotonia; limb hypertonia; 9m-epilepsy onset with febrile illness; normal development to 9m, then rapid regression following seizure onset; MRI brain diffuse global white matter loss (9m); cranial CT multiple scattered punctate calcifications in the periventricular, deep and subcortical white matter of both cerebral hemispheres (9m)
Inheritance	Familial, autosomal recessive
Age/Examination	20m
Age/Diagnosis	-
Age/Onset	9m
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

Global Variome shared LOVD