Phenotype #0000233436

Individual ID	00308013
Associated disease	?
Diagnosis/Initial	severe syndromic intellectual disability
Diagnosis/Definite	NEDESBA
Phenotype details	see paper; ..., severe global developmental delay, spastic quadraplegia, dystonia, no progressive scoliosis, 3m-4m epilepsy, no cortical visual impairment, no tracking, no impaired hearing, contractures in elbows, knees, anales and fingers, hip dislocation; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin; feeding difficulties, PEG tube feeds, G-tube procedure, maintained borderline weight; increased deep tendon reflexes
Inheritance	Familial, autosomal recessive
Age/Examination	7y (7 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