618142.2.1

Saudi Arabia

Microcephaly ; Agenesis of corpus callosum; Unilateral renal agenesis; Abnormal heart morphology; Abnormal facial shape

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001012759.2:c.873G>A	2		Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
618142.2.2	Saudi Arabia	Microcephaly	Unknown	Yes	Yes	Relative of 618142.2.1