Phenotype #0000010346

Individual ID	00011651
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	severe ID; no normal speech, stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, wheelchair bound, no foot deformity, head circumference -3SD, reduced height, no epilipsy, no sphincter control, normal eye, normal hearing, normal weight; 2.5y walk independently
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2014-02-14 21:25:29 +01:00 (CET)
Date last edited	2014-02-14 23:21:08 +01:00 (CET)

Global Variome shared LOVD