Phenotype #0000233438

Individual ID	00308015
Associated disease	?
Diagnosis/Initial	severe syndromic intellectual disability
Diagnosis/Definite	NEDESBA
Phenotype details	see paper; ..., severe global developmental delay, spastic quadraplegia, no dystonia, no progressive scoliosis, 3m-4m epilepsy, no cortical visual impairment, no tracking, no impaired hearing, no visual tracking, head control, rolling over any other visual-motor function; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin; feeding difficulties, G-tube procedure refused; no head control, no rolling over, no any other motor function, increased deep tendon reflexes
Inheritance	Familial, autosomal recessive
Age/Examination	17m
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