247100.5.2

Saudi Arabia

Intellectual disability, moderate ; Hoarse voice ; Erythematous papule

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004425.4:c.806G>A	2		Lipoid Proteinosis of Urbach and Wiethe

Sister of 247100.5.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
247100.5.1	Saudi Arabia	Intellectual disability, moderate ; Hoarse voice ; Skin-colored papule ; Yellow papule	Male	Yes	No