Phenotype #0000355630

Individual ID	00470734
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., global psychomotor developmental delay; no hypotonia; 8m-sit; 20m-walk; speech 2y-first words, word associations, no sentences; no autism spectrum disorder; behaviour tempermental; no epilepsy; MRI normal; prominent forehead, small ears, arched eyebrows, upslanting palpebral fissures, thin lips, mouth drooping corners; strabismus; growth retardation; retractile testicles
Age/Examination	4y (4 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