Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001319138.2:c.1144del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 200700.2.1 | Oman | Aplasia/hypoplasia of the extremities; Short humerus; Hypoplasia of the ulna; Short femur; Aplasia/Hypoplasia of the tibia; Aplasia/Hypoplasia of the tarsal bones; Aplasia/Hypoplasia of metatarsal bones | Male | Yes | Yes | |
| 200700.2.2 | Oman | Aplasia/hypoplasia of the extremities; Short humerus; Hypoplasia of the ulna; Short femur; Aplasia/Hypoplasia of the tibia; Aplasia/Hypoplasia of the tarsal bones; Aplasia/Hypoplasia of metatarsal bones | Male | Yes | Yes | Brother of 200700.2.1 |
| 200700.2.3 | Oman | Aplasia/hypoplasia of the extremities; Short humerus; Hypoplasia of the ulna; Short femur; Aplasia/Hypoplasia of the tibia; Aplasia/Hypoplasia of the tarsal bones; Aplasia/Hypoplasia of metatarsal bones | Female | Yes | Yes | Sister of 200700.2.1 |
| 200700.2.5 | Oman | Hallux valgus | Female | Yes | Mother of 200700.2.1 |