Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000067.3:c.232+1G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 259730.1.2 | Saudi Arabia | Osteopetrosis; Intellectual disability; Failure to thrive; Eczema; Recurrent infections | Female | Yes | Yes | Relative of 259730.1.1 |
| 259730.1.3 | Saudi Arabia | Osteopetrosis; Intellectual disability; Failure to thrive; Eczema; Recurrent infections | Female | Yes | Yes | Relative of 259730.1.1 |