Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005033.3:c.41T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 618065.2.1 | United Arab Emirates | Global developmental delay; Hand clenching; Hypotonia; Nystagmus; Deep palmar crease; Hypoasparaginemia; Hypocystinemia; Cerebellar atrophy; Cerebellar vermis atrophy; Hyperintensity of cerebral white matter on MRI; Brachycephaly; Esodeviation; Posteriorly rotated ears; High palate | Female | Yes | Yes | The patient had 2 first cousins once removed with psychomotor and speech delay |
| 618065.2.2 | United Arab Emirates | Male | Father of 618065.2.1 |