607014.1

Saudi Arabia

Hemiatrophy; Intrauterine growth retardation; High forehead; Pes cavus; Lower limb asymmetry; Genu valgum; Hallux valgus; Umbilical hernia; Kyphosis

Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000203.5:c.1868T>C	1	NA	Hurler Syndrome
NM_000203.5:c.878_889dup	1	NA	Hurler Syndrome

Patient's parents are from the same region.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
607014.2	Saudi Arabia	Coarse facial features; Infra-orbital crease; Depressed nasal bridge; Anteverted nares; Hepatosplenomegaly	Female		Yes