242840.3

Egypt

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

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_020964.3:c.2355del	2		Vici Syndrome

The patient had 3 similarly affected siblings