247100.3.1

Libya

Hoarse voice ; Yellow papule ; Dry skin; Sparse scalp hair ; Hypoplasia of teeth

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004425.4:c.93_94delinsTT	2		Lipoid Proteinosis of Urbach and Wiethe

Proband. He had an affected brother who died at 3 years of age due to respiratory distress.

Related Subjects

Subject Id	Country	Sex	Family History	Parental Consanguinity	Remarks
247100.3.2	Libya	Unknown	Yes	Yes	Unaffected sibling of 247100.3.1
247100.3.3	Libya	Unknown	Yes	Yes	Unaffected sibling of 247100.3.1
247100.3.4	Libya	Unknown	Yes	Yes	Unaffected sibling of 247100.3.1
247100.3.5	Libya	Unknown	Yes	Yes	Unaffected sibling of 247100.3.1
247100.3.6	Libya	Female	Yes		Unaffected mother of 247100.3.1