604804.1.1

Saudi Arabia

Dysplastic corpus callosum; Dry skin; Mixed hypo- and hyperpigmentation of the skin

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001011649.2:c.384_2106del	1		Microcephaly 3, Primary, Autosomal Recessive
NM_001011649.3:c.140del	1		Microcephaly 3, Primary, Autosomal Recessive

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
604804.1.2	Saudi Arabia	Dysplastic corpus callosum; Dry skin; Mixed hypo- and hyperpigmentation of the skin	Female	Yes	No	Relative of 604804.1.1