Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive Autosomal dominant
13q12.2
Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613717.1 | Saudi Arabia | Male | Microcephaly; Micrognathia; Abnormal fac... Microcephaly; Micrognathia; Abnormal facial shape  | NM_015972.4:c.388G>T | Heterozygous | Autosomal, Dominant | Monies et al. 2017 | |||
| 613717.2 | Saudi Arabia | Male | Abnormal facial shape Abnormal facial shape | NM_015972.4:c.388G>T | Heterozygous | Autosomal, Dominant | Monies et al. 2017 |