Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002857.4:c.320del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614886.1.1 | Saudi Arabia | Hypotonia; Global developmental delay; Cranial asymmetry; Asymmetry of the ears; Wide anterior fontanel; Wide nasal bridge; Cerebral atrophy; CNS demyelination; Hyperbilirubinemia; Metabolic acidosis; Proteinuria; Sepsis; Hepatic failure; Death in infancy | Female | No | Yes | Patient died at 16 months of age due to sepsis, coagulopathy, and liver failure. |
| 614886.1.3 | Saudi Arabia | Female | Mother of 614886.1.1 |