615399.3.1

Saudi Arabia

Encephalocele; Polycystic kidney dysplasia; Agenesis of corpus callosum; Hepatic cysts; Talipes equinovarus

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001077418.3:c.664G>A	2	NA	Meckel Syndrome, Type 11

Patient from 'family FT-18' in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615399.3.2	Saudi Arabia		Male			Father of 615399.3.1
615399.3.3	Saudi Arabia		Female			Mother of 615399.3.1