301000.1.2

Saudi Arabia

Prolonged bleeding following circumcision; Petechiae; Bruising susceptibility; Eczema

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000377.2:c.559+5G>C	1		Wiskott-Aldrich Syndrome

Sibling of 301000.1.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
301000.1.1	Saudi Arabia	Abnormal bleeding; Petechiae; Abnormal platelet count	Male	Yes		Sibling of 301000.1.2
301000.1.3	Saudi Arabia	Prolonged bleeding following circumcision; Petechiae; Bruising susceptibility; Eczema	Female			Mother of 301000.1.1 and 301000.1.2