Unknown
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000350.3:c.6286G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 248200.11 | Saudi Arabia | Alternating esotropia; Myopia; Macular scar; Global developmental delay; Generalized hypotonia; Feeding difficulties; Recurrent lower respiratory tract infections; Abnormal facial shape; Leukodystrophy | Female | No | Yes | |
| 248200.13 | Saudi Arabia | Macular dystrophy | Unknown | No |