Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004625.4:c.874C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
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 |