Phenotype #0000233440

Individual ID	00308017
Associated disease	?
Diagnosis/Initial	severe syndromic intellectual disability
Diagnosis/Definite	NEDESBA
Phenotype details	see paper; ..., severe global developmental delay, developmental regression, spastic quadraplegia, dystonia, <1y-epilepsy; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin; MRI cerebral atrophy; EEG showed frontal lobe spikes, abnormal movements, spacticity, contractures
Inheritance	Familial, autosomal recessive
Age/Examination	-
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	2020-08-25 13:30:59 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD