Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005431.2:c.643C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617247.1 | Saudi Arabia | Progressive microcephaly; Multiple cafe-au-lait spots; Strabismus; Abnormal facial shape; Failure to thrive; Pancytopenia; Chromosome breakage; Hip dysplasia | Female | Yes | Yes | Similarly affected sibling |
| 617247.2 | Saudi Arabia | Facial palsy; Microcephaly; Absent thumb; Absent radius; Absent scaphoid | Male | Yes |