Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014264.5:c.1299_1303del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616171.1.1 | Saudi Arabia | Intrauterine growth retardation; Sloping forehead; Prominent nose; Proptosis; Prominent metopic ridge; Optic nerve hypoplasia; Strabismus; Short long bone; Microcephaly; Global developmental delay; Severe short stature; Micrognathia | Female | Yes | Yes | Index patient |
| 616171.1.3 | Saudi Arabia | Intrauterine growth retardation; Microcephaly; Global developmental delay; Severe short stature; Sloping forehead; Prominent nose; Proptosis; Micrognathia; Optic nerve hypoplasia; Strabismus | Female | Yes | Yes | Paternal half-sister of 616171.1.1 |