Phenotype #0000074197

Individual ID	00095914
Associated disease	NDHSAL
Phenotype details	developmental delay (HP:0001263), intellectual disability (HP:0001249), no autism (-HP:0000717), hypotonia (HP:0001252), sit unable, walk unable, EEG multifocal and generalised epileptiform and slow spike-wave discharges with diffuse background slowing, self-stimulatory rocking, sucking on fingers, choreiform movements, optic atrophy, cortical visual impairment, MRI-brain progressive cerebral atrophy with mild cerebellar loss, atrophy of visual pathways, several small arachnoid cysts G-tube fed, gastroparesis, constipation, hypotonic facies, highly arched palate, gracile bones, mild osteopenia throughout with no definite dysplasia, cardiomyopathy started prenatally, heart block, prolonged QT interval
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	06y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-01-23 08:34:05 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD