Female
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001079846.1:c.685C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 180849.2 | United Arab Emirates | Cryptorchidism; Elbow flexion contracture; Global developmental delay; Hirsutism | Male | No | De novo mutation | |
| 180849.3 | United Arab Emirates | Intellectual disability; Severe short stature | Male | No | De novo mutation | |
| 180849.4 | United Arab Emirates | Intellectual disability; Severe short stature; Abnormal facial shape | Male | No | De novo mutation | |
| 180849.5 | United Arab Emirates | Short stature; Decreased body weight; Microcephaly; Intellectual disability; Optic atrophy; Talipes equinovarus; Abnormal facial shape | Female |