Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005219.5:c.2769del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616632.3.1 | Oman | Death in adolescence; Seizure; Microcephaly; Visual impairment; Optic atrophy; Intellectual disability; Bronchiectasis | Female | Yes | Yes | Patient had an older sister who "died of unknown causes but was not known to be similarly affected." |
| 616632.3.2 | Oman | Death in adolescence; Seizure; Microcephaly; Visual impairment; Optic atrophy; Intellectual disability | Female | Yes | Yes | Sibling of 616632.3.1 |