Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000115.5:c.548C>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277580.2.1 | Tunisia | Aganglionic megacolon; Sensorineural hearing impairment; White forelock; Heterochromia iridis | Female | Yes | Yes | |
| 277580.2.2 | Tunisia | Aganglionic megacolon; Sensorineural hearing impairment; White forelock; Heterochromia iridis | Female | Yes | Yes | Sister of 277580.2.1 |
| 277580.2.4 | Tunisia | Female | Mother of 277580.2.1 | |||
| 277580.2.5 | Tunisia | Male | Brother of 277580.2.1 |