Phenotype #0000355633

Individual ID	00470737
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., global psychomotor developmental delay; no hypotonia; 10m-sit; 24m-walk; no speech; severe intellectual disability; behaviour autoaggressivity; 9y-epilepsy; flat round face, broad eyebrows, hypertelorism, short neck, low posterior hair implantation; no skeletal abnormalities; normal kidney; obesity, diabetes mellitus
Age/Examination	47y (47 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-12-08 15:51:34 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD