242840.7

Saudi Arabia

Agenesis of corpus callosum; Cataract; Profound global developmental delay; Failure to thrive; Microcephaly

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_020964.3:c.3693G>A	2		Vici Syndrome

The patient had 2 siblings with Gaucher's disease