Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014028.4:c.415_416del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 259720.5 | Saudi Arabia | Hypotonia; Optic atrophy; Increased bone mineral density; Anemia; Thrombocytopenia; Cerebellar cortical atrophy; Death in infancy | Male | No | Yes |