Unknown
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_032119.4:c.1477C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
605472.4.2 | United Arab Emirates | Congenital sensorineural hearing impairment | Unknown | Potentially de novo. Healthy asymptomatic parents. One affected sibling. |