242840.1

Saudi Arabia

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.4751T>A	2		Vici Syndrome

Patient had 2 similarly affected siblings and several relatives with fairer hair than expected