Phenotype #0000355614

Individual ID	00470718
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., global psychomotor developmental delay; 24m-sit; 3y-walk; speech 3y-first words, single words; moderate-severe intellectual disability; no autism spectrum disorder; behaviour quiet; no epilepsy; MRI normal; broad forehead, thick eyebrow, low set ears, thin upper lip; microphthalmia (left); bilateral foot polydactyly, left hand postaxial polydactyly, bilateral clinodactyly, hallux valgus; short stature
Age/Examination	49y (49 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