Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_022124.6:c.5237G>A | 2 | NA | ||
NM_000046.5:c.475C>T | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
601067.3 | United Arab Emirates | Congenital sensorineural hearing impairment | Unknown | One patient exhibiting a large deletion |