Phenotype #0000331104

Individual ID	00441679
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., microcephaly; global developmental delay; 23y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; no peripheral neuropathy; ataxia; mild atrophy, CSF space enlargement; low set ears, overfolded helices, syndactyly; tone increased; power reduced; sensation normal; ataxic gait; reflexes normal;
Inheritance	Isolated (sporadic)
Age/Examination	5y8m (5 years, 8 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-09 12:18:41 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD