Unknown
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003995.3:c.2869C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 602875.1.1 | Oman | Short stature; Severe short-limb dwarfism; Cervical spina bifida | Unknown | No | Yes | passed away at a few months of age. |
| 602875.1.3 | Oman | Short stature; Severe short-limb dwarfism | Unknown | No | Yes | sibling of 602875.1.1 |
| 602875.1.4 | Oman | Unknown | No | mother of 602875.1.1 | ||
| 602875.1.5 | Oman | Male | No | Father of 602875.1.1 |