608716.8.1

Saudi Arabia

Hydranencephaly; Anal atresia; Atrial septal defect; Ventricular septal defect

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_018136.5:c.1138C>T	2		Microcephaly 5, Primary, Autosomal Recessive

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
608716.8.2	Saudi Arabia	Hydranencephaly; Anal atresia; Atrial septal defect; Ventricular septal defect	Male	Yes	Yes	Sibling of 608716.8.1