614563.1

United Arab Emirates

Developmental regression; Seizure; Microcephaly; Cataract; Lissencephaly; Pachygyria; Gray matter heterotopia;

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001376.5:c.10973G>A	1		Mental Retardation, Autosomal Dominant 13