Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000405.5:c.262_264del | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272750.1.1 | Saudi Arabia | Global developmental delay; Hypotonia; Hyporeflexia; Seizure; Hyperacusis; Cherry red spot of the macula; Nystagmus; Hepatomegaly; Brain atrophy | Female | Yes | 'Patient A' from the publication |