Phenotype #0000343459

Individual ID	00454852
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	RENU
Phenotype details	see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, aquired; moderate global developmental delay; 1-2y-walk; no speech; intellectual disability; no behavioral issues; Fixated on fans, cars Very happy kid Likes everything in his mouth (except food!); hypotonia (mild); seizures; MRI brain abnormal, thin corpus callosum, Abnormal cerebral white matter morphology At age ~3.5, small focus of hypointensity right frontal lobe on graident echo and associated with white matter hyperintensity on T2 and FLAIR. Likely calcification and gliosis; white matter volume loss predominantly in parietal and occipital lobes; thinning or corpus callosum In June 2018, thin corpus callosum; ventriculomegaly; diffuse parenchymal volume loss versus hypoplasia
Inheritance	Isolated (sporadic)
Age/Examination	3y (3 years)
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