613885.1

Saudi Arabia

Hydrocephalus; Polycystic kidney dysplasia; Narrow chest; Oligohydramnios; Occipital encephalocele; Ventriculomegaly

Unknown

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_024809.5:c.1506-2A>G	2		Meckel Syndrome 8

Subject had two sisters and a cousin with 'same manifestations' that died perinatally. Identified as 12DG2131 in the publication.