Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_025139.6:c.1559C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617622.2.1 | Saudi Arabia | Global developmental delay; Retinal dystrophy; Abnormality of eye movement; Polydactyly; Ptosis; Wide nasal bridge; Thin upper lip vermilion; 2-3 toe syndactyly; Molar tooth sign on MRI; Superior cerebellar dysplasia | Female | Yes | Proband | |
| 617622.2.2 | Saudi Arabia | Global developmental delay; Ptosis; Molar tooth sign on MRI; Superior cerebellar dysplasia; Thick corpus callosum; Apnea; Tachypnea | Male | Yes | Affected relative of the proband. |