615328.G.1

Saudi Arabia

Hypohidrosis; Palmoplantar hyperkeratosis; Intellectual disability; Microcephaly; Hepatitis

Unknown

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_020751.3:c.1167-24A>G	8		Shaheen Syndrome

4 patients from 2 different consanguineous families