Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001378615.1:c.3364C>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612285.1 | Saudi Arabia | Breathing dysregulation; Generalized hypotonia; Abnormal facial shape; Nystagmus; Global developmental delay | Male | Yes | ||
| 612285.3 | Saudi Arabia | Ataxia; Global developmental delay; Hypotonia | Unknown | Yes | Patient from 'MTI-127' family in the publication; has another compound heterozygous mutation in the same (CC2D2A) gene. |