614833.1.1

Saudi Arabia

Hyperpigmentation of the skin; Protruding ear; Prominent nose; Hyperplasia of the maxilla

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_173630.4:c.5746-20A>G	2		Microcephaly, Short Stature, and Polymicrogyria with or without Seizures

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
614833.1.2	Saudi Arabia		Male	Yes	Yes	Relative of 614833.1.1