Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001168370.2:c.263del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 273750.2.1 | United Arab Emirates | Short stature; Small for gestational age; Growth delay; Triangular face; Pointed chin; Macrocephaly; Prominent forehead; Long philtrum; Short digit; Hyperextensible thumb; Prominent calcaneus; Hyperlordosis | Male | Yes | Yes | The patient also had two similarly affected sisters that died in the first year of life with respiratory failure |
| 273750.2.3 | United Arab Emirates | Male | Father of 273750.2.1 | |||
| 273750.2.4 | United Arab Emirates | Female | Mother of 273750.2.1 |