Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014028.4:c.415_416del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 259720.1.1 | Kuwait | Osteopetrosis; Autosomal recessive inheritance; Hepatosplenomegaly; Thrombocytopenia; Neurodegeneration | Female | Yes | Yes | Had an affected deceased sibling |
| 259720.1.2 | Kuwait | Female | Mother of 259720.1.1 |