242300.10.1

Egypt

Scaling skin;

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000359.3:c.428G>A	2		Ichthyosis, Lamellar, 1

The patient had a similarly affected brother as well as four affected female cousins

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
242300.10.2	Egypt	Scaling skin	Female	Yes	Yes	Mother of 242300.10.1
242300.10.3	Egypt	Scaling skin; Bilateral tonic-clonic seizure	Female	Yes	Yes	First cousin of 242300.10.1