Unknown
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001292063.2:c.965C>T | 1 | |||
NM_000260.4:c.247C>A | 1 | |||
NM_144672.4:c.3079C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
604487.1 | United Arab Emirates | Hearing impairment | Unknown | Patient has heterozygous variants in OTOG, DMXL2 and USH1C. All three of these genes are hearing loss-associated. |