Phenotype #0000010349

Individual ID	00011654
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	severe ID; no normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, spasticity, drooling, not ambulant, foot deformity, head circumference -2SD, height 140cm, no epilipsy, sphincter control, amblyopia, normal hearing, no overweight; 2.5y walk independently
Age/Examination	18y (18 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 23:01:15 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD