Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001360.2:c.1400C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 270400.1.1 | Lebanon | Microcephaly; Global developmental delay; Sinusitis; Recurrent otitis media; Mastoiditis; Hemangioma; Bilateral ptosis; Wide nasal bridge; Malar flattening; Long philtrum; Hyperextensibility of the finger joints | Male | Yes | Yes | Proband. (Parents were of Lebanese and Syrian ancestry). |
| 270400.1.2 | Lebanon | Microcephaly; Global developmental delay; Recurrent otitis media; Increased size of nasopharyngeal adenoids; Myopic astigmatism; Recurrent tonsillitis; Malar flattening; Micrognathia | Female | Yes | Yes | Sister of 270400.1.1 |
| 270400.1.4 | Lebanon | Female | Yes | Unaffected mother of 270400.1.1 | ||
| 270400.1.5 | Lebanon | Microcephaly; Cleft lip | Male | Yes | Yes | Unaffected brother of 270400.1.1 |