617090.G.1

Saudi Arabia

Microcephaly; Intellectual disability; Sloping forehead

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001206999.2:c.753+3A>T	8	NA	Microcephaly 17, Primary, Autosomal Recessive

Four siblings including identical twins (female)