Female
No
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001122659.3:c.1025G>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
277580.1.1 | Lebanon | Sensorineural hearing impairment; Abnormal iris pigmentation; White forelock; Hypopigmentation of the skin; Aganglionic megacolon | Male | No | Yes | |
277580.1.2 | Lebanon | Male | No | Yes | Father of 277580.1.1 |