Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000115.5:c.548C>G | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
277580.2.2 | Tunisia | Aganglionic megacolon; Sensorineural hearing impairment; White forelock; Heterochromia iridis | Female | Yes | Yes | Sister of 277580.2.1 |
277580.2.3 | Tunisia | Male | Father of 277580.2.1 | |||
277580.2.4 | Tunisia | Female | Mother of 277580.2.1 | |||
277580.2.5 | Tunisia | Male | Brother of 277580.2.1 |