247100.1.1

Lebanon

Hoarse voice ; Skin-colored papule ; Hyperkeratotic papule ; Difficulty in tongue movements ; Abnormal oral frenulum morphology

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004425.4:c.121+1G>C	2		Lipoid Proteinosis of Urbach and Wiethe

The patient also had two cousins with similar symptoms

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
247100.1.2	Lebanon	Skin-colored papule ; Hyperkeratotic papule ;	Male	Yes	Yes	Brother of 247100.1.1