192315.1

United Arab Emirates

Cognitive impairment; Generalized hypotonia; Flexion contracture; Glaucoma; Brain atrophy

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_033629.6:c.341G>A	2		Vasculopathy, Retinal, with Cerebral Leukodystrophy

Deceased sibling with similar features