Phenotype #0000143713

Individual ID	00181524
Associated disease	DD
Phenotype details	normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; infantile spasms, convulsive status epilepticus; EEG-disorganized paroxysms; autism spectrum disorder; RTT-like features stereotyped hand movements, absent purposeful hand movements; choreic movement, myoclonic jerks; central visual defects; no speech; MRI brain unremarkable; abnormal behavior, inability to walk, severe constipation
Diagnosis/Initial	developmental delay
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	NEDHAHM
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Stephanie Efthymiou
Database submission license
Created by	Stephanie Efthymiou
Date created	2018-10-10 15:34:10 +02:00 (CEST)
Date last edited	2020-06-17 10:11:47 +02:00 (CEST)

Global Variome shared LOVD