Phenotype #0000233439

Individual ID	00308016
Associated disease	?
Diagnosis/Initial	severe syndromic intellectual disability
Diagnosis/Definite	NEDESBA
Phenotype details	see paper; ..., severe global developmental delay, spastic quadraplegia, dystonia, progressive scoliosis, >11m epilepsy, optic atrophy, 4m-nystagmus, no impaired hearing; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin, tooth discolouration; feeding difficulties, 3m-reflux after switching to formula, progressive loss of swallowing but died before G-tube; progressive contractures, hips became nearly fixed
Inheritance	Familial, autosomal recessive
Age/Examination	3y (3 years)
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