Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_025114.4:c.5668G>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610188.4 | Saudi Arabia | Global developmental delay; Intellectual disability; Seizure; Abnormal posterior cranial fossa morphology | Female | Yes | Yes | Affected sibling |
| 610188.5 | Saudi Arabia | Generalized hypotonia; Global developmental delay; Visual impairment; Nystagmus | Female | Yes | ||
| 610188.6 | Saudi Arabia | Retinal dystrophy; Nephronophthisis; Molar tooth sign on MRI | Female | Yes | ||
| 610188.8 | Saudi Arabia | Global developmental delay; Molar tooth sign on MRI | Female | Yes | Yes | |
| 610188.9 | Saudi Arabia | Molar tooth sign on MRI | Unknown | |||
| 610188.10 | Saudi Arabia | Molar tooth sign on MRI; Nephronophthisis | Unknown | |||
| 610188.11 | Saudi Arabia | Ataxia; Molar tooth sign on MRI; Global developmental delay; Hypotonia | Unknown | Yes | Patient from 'JS_F11' family in the publication |