Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001319138.2:c.1144del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
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 |
200700.2.4 | Oman | Short 1st metacarpal; Short middle phalanx of the 5th finger | Male | Yes | Father of 200700.2.1 | |
200700.2.5 | Oman | Hallux valgus | Female | Yes | Mother of 200700.2.1 |