Phenotype #0000358898

Individual ID	00474098
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	NEDISHM
Phenotype details	see paper; ..., born at term, uneventful pregnancy, normal birth weight; three spontaneous early abortions; early-onset intellectual disability; severe developmental delay; 3y-tonic-clonic seizures, intellectual regression, motor regression; <50y-wheelchair-bound, , no speech, needs support with feeding/aily needs, tonic-clonic seizures persist
Inheritance	Familial, autosomal recessive
Age/Examination	<50y (before 50 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-10 19:07:49 +01:00 (CET)
Date last edited	2026-03-10 19:29:18 +01:00 (CET)

Global Variome shared LOVD