Phenotype #0000296524

Individual ID	00403844
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	died at 40w; weight on the 3rd centile, height 3rd centile, OFC 3rd centile; motor development independent in basic activity of daily living; able to walk; neurodevelopmental delay; pseudobulbar affect; epilepsy; MRI brain white matter abnormalities, systemic diffuse T2/FLAIR hyperintensity in the cerebral and celebellar white matter with extension to the subcortical areas, mild T2 hyperintensity in globus pallidus bilat. And brain parenchymal volume loss.; not fixing or following with positive pupillary respons; dysmorphism; gray sclera; genu valgum; Nefropathy, dysarthria, (6m-acute nephritis, 20y-nephronic syndrome due to FSGS (steroid resistant), end-stage renal failure), 5y-coeliac disease
Inheritance	Familial, autosomal recessive
Age/Examination	<1d
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-02-24 15:46:26 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD