Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_005221.6:c.533A>C | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
220600.1.2 | Yemen | Ectrodactyly; Abnormal nails; Hearing impairment | Female | Yes | Yes | Relative of 220600.1.1 |