Phenotype #0000346983

Individual ID	00458552
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	NEDHBA
Phenotype details	see paper; ..., pregnancy unremarkable, birth-39w, weight 3.5kg (83th); height 170cm (85th), weight 55kg (36th), OFC 56cm (94th); severe global developmental delay, profound intellectual disability (IQ<20); no developmental regression; 2y-walk, self-feeding, can not hold light things; wide base gait; delayed speech, babbling; normal vision, no hearing loss; dysmorphic features, Marfanoid elongated face, disordered teeth, low subcutaneous fat, scarring skin; central tone mild hypotonia; peripheral tone no hypotonia; no muscle atrophy; normal deep tendon reflexes; normal plantar response; no seizures; happy demeanor
Inheritance	Familial, autosomal recessive
Age/Examination	37y (37 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