Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004380.3:c.2204del | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 180849.1 | Saudi Arabia | Global developmental delay; Abnormal facial shape | Female | No | No | de novo mutation |
| 180849.2 | Saudi Arabia | Cryptorchidism; Elbow flexion contracture; Global developmental delay; Hirsutism | Male | No | De novo mutation | |
| 180849.3 | Saudi Arabia | Intellectual disability; Severe short stature | Male | No | De novo mutation | |
| 180849.5 | Saudi Arabia | Short stature; Decreased body weight; Microcephaly; Intellectual disability; Optic atrophy; Talipes equinovarus; Abnormal facial shape | Female |