Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017890.4:c.9406-1G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 216550.5.1 | Lebanon | Intellectual disability; Microcephaly; Cutis gyrata of scalp; Prominent supraorbital ridges; Rod-cone dystrophy; Cataract; Sensorineural hearing impairment; Kyphoscoliosis; Prominent nose; Hypertelorism | Male | Yes | No | |
| 216550.5.2 | Lebanon | Intellectual disability; Microcephaly; Cutis gyrata of scalp; Prominent supraorbital ridges; Rod-cone dystrophy; Cataract; Sensorineural hearing impairment; Kyphoscoliosis; Prominent nose; Hypertelorism | Male | Yes | No | Brother of 216550.5.1 |
| 216550.5.3 | Lebanon | Female | Yes | No | Unaffected mother of 216550.5.1 |