Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_139278.4:c.1117del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 620007.4.1 | Saudi Arabia | Global developmental delay; Intellectual disability, mild; Abnormality of limb bone morphology | Female | Yes | Yes | Index patient from 'family 5B' in the publication |
| 620007.4.3 | Saudi Arabia | Male | Father of 620007.4.1 | |||
| 620007.4.4 | Saudi Arabia | Female | Mother of 620007.4.1 |