Phenotype #0000347516

Individual ID	00459442
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., developmental delay; primary microcephaly; severe intellectual disability; delayed speech; delayed motor development, not walking; progressive spasticity predominantly lower extremities; no ataxia; peripheral neuropathy; 2y-complex focal seizures; strabism; no hearing impairment; thin upper lip; hypochromic skin lesion; 15y/21y-neuroimaging progressive cerebral atrophy (detailed in paper)
Inheritance	Familial, autosomal recessive
Age/Examination	21y (21 years)
Age/Diagnosis	-
Age/Onset	0d
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-04 12:10:18 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD