Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001378615.1:c.4583G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612285.1 | United Arab Emirates | Breathing dysregulation; Generalized hypotonia; Abnormal facial shape; Nystagmus; Global developmental delay | Male | Yes | ||
| 612285.2 | United Arab Emirates | Hydrocephalus; Failure to thrive; Renal insufficiency; Global developmental delay | Male | Yes | Yes |