276820.3

Saudi Arabia

Aplasia/hypoplasia of the extremities; Bulbous nose; Low-set ears; Cryptorchidism; Anteriorly displaced genitalia

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004625.4:c.610G>A	2		Ulna and Fibula, Absence of, with Severe Limb Deficiency

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
276820.2	Saudi Arabia	Aplasia/Hypoplasia of the nails; Hypoplasia of the radius; Abnormal pelvis bone morphology	Female		Yes