Phenotype #0000343472

Individual ID	00454865
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	RENU
Phenotype details	see paper; ..., no intra-uterine growth retardation; short stature; no microcephaly; severe global developmental delay; 3y-walk; speech few words (but essentially non-verbal, communicates with gestures, pointing, PECS); intellectual disability, severe; behavioral issues; Some aggressive behaviours, sensory-seeking.; hypotonia; no seizures; MRI brain abnormal, delayed myelination of the subcortical U fibres at frontotemporal poles (WM intensities flair-RJL). Smaller left temporal lobe, thin corpus callosum, dysplastic left hypocampus
Inheritance	Isolated (sporadic)
Age/Examination	8y6m (8 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-30 10:26:47 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD