Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004525.3:c.7564T>C | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 222448.3.1 | United Arab Emirates | Hypertelorism; Abnormal facial shape; High myopia; Hearing impairment; Low-molecular-weight proteinuria; Eczema; Global developmental delay; Short stature; Hematuria; Renal tubular atrophy | Female | Yes | Yes | |
| 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 |