Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001271440.1:c.640-23A>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 602271.1.1 | Saudi Arabia | Short stature; Hypermetropia; Strabismus; Rhizomelia; Micrognathia; Generalized joint laxity | Male | Yes | Yes | |
| 602271.1.3 | Saudi Arabia | Short stature; Hypermetropia; Strabismus; Rhizomelia; Micrognathia; Generalized joint laxity | Female | Yes | Yes | Relative of 602271.1.1 |