Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024911.7:c.1175A>G | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619648.1.2 | United Arab Emirates | Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly | Female | Yes | Sister of 619648.1.1 | |
| 619648.1.3 | United Arab Emirates | Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly | Female | Yes | Sister of 619648.1.1 | |
| 619648.1.4 | United Arab Emirates | Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly; Cerebellar vermis hypoplasia; Dilated fourth ventricle | Female | Yes | Sister of 619648.1.1 | |
| 619648.1.5 | United Arab Emirates | Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly | Male | Yes | Brother of 619648.1.1 | |
| 619648.1.6 | United Arab Emirates | Male | Father of 619648.1.1 | |||
| 619648.1.7 | United Arab Emirates | Female | Mother of 619648.1.1 |