251200.1

United Arab Emirates

Global developmental delay; Microcephaly

Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001172574.1:c.1349A>C	1		Microcephaly, Primary Autosomal Recessive, 1

Carries heterozygous deletion of exon 1-11 in MCPH1 along with a missense mutation