300068.6.1

Lebanon

Female external genitalia in individual with 46,XY karyotype; Absent pubic hair; Thoracic kyphosis; Bimanual synkinesia; Anosmia;

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000044.3:c.1617-3C>G	1		Androgen Insensitivity Syndrome

Sibling of 300068.6.2

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
300068.6.2	Lebanon	Female external genitalia in individual with 46,XY karyotype; Absent pubic hair	Female	Yes	Yes	Sibling of 300068.6.1