615328.1.G.1

Saudi Arabia

Hypohidrosis; Palmoplantar hyperkeratosis; Intellectual disability; Microcephaly

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_020751.3:c.1167-24A>G	14		Shaheen Syndrome

7 relatives of 615328.1.1