Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001014796.3:c.2254C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 271665.1.2 | Egypt | Short long bone; Metaphyseal dysplasia; Epiphyseal dysplasia; Flared iliac wing; Triangular shaped phalanges; Optic atrophy | Male | Yes | Yes | Sibling of 271665.1.1 |
| 271665.1.3 | Egypt | Male | Father of 271665.1.1 | |||
| 271665.1.4 | Egypt | Female | Mother of 271665.1.1 |