Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001286577.1:c.184C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615948.1.1 | Lebanon | Microcephaly; Abnormal facial shape; Bifid tongue; Lobulated tongue; Hamartoma of tongue; Cleft palate; Aplasia of the epiglottis; Supernumerary tooth; Postaxial hand polydactyly; Broad hallux; Retinopathy; Intellectual disability; Micropenis; Cerebellar vermis hypoplasia | Male | Yes | Yes | Proband |
| 615948.1.3 | Lebanon | Male | Yes | Father of 615948.1.1 | ||
| 615948.1.4 | Lebanon | Male | Yes | Mother of 615948.1.1 |