Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004525.3:c.7564T>C | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
222448.3.2 | United Arab Emirates | Hypertelorism; Abnormal facial shape; High myopia; Hearing impairment; Low-molecular-weight proteinuria; Eczema; Global developmental delay; Short stature | Female | Yes | Yes | Sister of 222448.3.1 |
222448.3.3 | United Arab Emirates | Male | Unaffected relative of 222448.3.1 |