Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001814.6:c.319-1G>A | 2 | |||
| NM_000372.5:c.816G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 245000.1.1 | Jordan | Premature loss of teeth; Palmoplantar hyperkeratosis; Hyperkeratosis with erythema; Pustule; Recurrent respiratory infections; Halitosis; White hair; Reduced visual acuity ; Photophobia; Hypoplasia of the fovea; Chorioretinal hypopigmentation | Male | Yes | Yes | Proband |
| 245000.1.2 | Jordan | Premature loss of teeth; Palmoplantar hyperkeratosis; Hyperkeratosis with erythema; Pustule; Recurrent respiratory infections; Halitosis; White hair; Reduced visual acuity ; Photophobia; Hypoplasia of the fovea; Chorioretinal hypopigmentation | Male | Yes | Yes | Brother of 245000.1.1 |