Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_007374.3:c.532_536del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 212550.1.1 | Syria | Global developmental delay; Intellectual disability; Thin skin; Deeply set eye; Anophthalmia | Male | Yes | Yes | Proband |