249000.9

Kuwait

Renal cyst; Postaxial polydactyly; Encephalocele; Malformation of the hepatic ductal plate

Unknown

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017777.4:c.515+1G>A	2		Meckel Syndrome, Type 1

The patient had a similarly affected sibling