Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000108.5:c.1444A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 246900.2.1 | Algeria | Death in childhood; Axial hypotonia; Rigidity; Choreoathetosis; Cerebral cortical atrophy | Male | Yes | Yes | |
| 246900.2.2 | Algeria | Death in childhood; Axial hypotonia; Rigidity; Choreoathetosis; Cerebral cortical atrophy; Hypertrophic cardiomyopathy | Male | Yes | Yes | Brother of 246900.2.1 |