607014.2

Syria

Coarse facial features; Infra-orbital crease; Depressed nasal bridge; Anteverted nares; Hepatosplenomegaly

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000203.5:c.613_617dup	2	NA	Hurler Syndrome

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
607014.1	Syria	Hemiatrophy; Intrauterine growth retardation; High forehead; Pes cavus; Lower limb asymmetry; Genu valgum; Hallux valgus; Umbilical hernia; Kyphosis	Female			Patient's parents are from the same region.