Phenotype #0000331332

Individual ID	00441949
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental dealy
Diagnosis/Definite	-
Phenotype details	see paper; ..., slightly coarse features, low set ears, increased facial hair; severe global developmental delay; hypotonia, no sitting or walking; prominence to the bodies of the lateral ventricles with generous extra‐axial csf spaces with bilateral and symmetric underopercularization, thinning and foreshortening of the corpus callosum; no cardiac anomalies; respiratory distress, recurrent respiratory infections; hepatosplenomegaly; no skeletal findings; optic atrophy, reduced visus, strabismus; hypothyroidism
Inheritance	Familial, autosomal recessive
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-16 13:17:26 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD