Phenotype #0000346986

Individual ID	00458555
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	NEDHBA
Phenotype details	see paper; ..., pregnancy unremarkable, birth-34w, weight 2kg (26th), OFC 33cm (25th); height 118cm (50th), weight 21kg (9-25th), OFC 47.5cm (below 10th); mild-moderate global developmental delay, mild-moderate intellectual disability; no developmental regression; 2y-walk; current normal gross motor skills; ataxia; mild speech delay, 1.5y-first speech; dysarthria; normal vision, no hearing loss; no dysmorphic features; mild cerebellar ataxia; central tone mild hypotonia; peripheral tone no hypotonia; no muscle atrophy; normal deep tendon reflexes; normal plantar response; no seizures; no behavioral characteristics; CT scan small right frontal horn; MR NAD
Inheritance	Familial, autosomal recessive
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-12-18 16:32:47 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD