Phenotype #0000325290

Individual ID	00435053
Associated disease	NDD
Diagnosis/Initial	NDD
Diagnosis/Definite	-
Phenotype details	see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain subtle peripheral white matter hyperintensity around occipital horns and to lesser extent frontal regions; ; no seizures; no microcephaly; no optic findings; no prenatal findings; no facial dysmorphisms
Inheritance	Familial, autosomal recessive
Age/Examination	6y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-05-05 15:10:52 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD