276820.1.1

Syria

Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the ulna; Ectrodactyly; Nail dysplasia; Elbow flexion contracture; Abnormality of the elbow

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004625.4:c.874C>T	2		Ulna and Fibula, Absence of, with Severe Limb Deficiency

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
276820.1.2	Syria	Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the ulna; Nail dysplasia; Abnormality of the elbow	Female	Yes	Yes	Sibling of 276820.1.1