Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017890.4:c.9406-1G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 268050.1.1 | Lebanon | Microcephaly; Postnatal growth retardation; Intellectual disability; Hypotonia; Chorioretinal dystrophy; Myopia | Male | Yes | Yes | Brother of 268050.1.2, Cousin of 268050.1.3 |
| 268050.1.3 | Lebanon | Microcephaly; Postnatal growth retardation; Intellectual disability; Hypotonia; Chorioretinal dystrophy; Myopia | Male | Yes | Yes | Cousin of 268050.1.1 and 268050.1.2 |