Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022739.4:c.1921A>G | 2 | |||
| NM_016627.5:c.25C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 605532.1.1 | Egypt | Intellectual disability, mild; Hypotonia; Microcephaly; Hypospadias; Megalocornea; Cerebral atrophy | Male | Yes | Yes | Authors classified these gene variants as "moderately confident" novel candidates for neurodevelopmental disorders. |