Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
16q12.1
Townes-Brocks syndrome-1 (TBS1) is characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 107480.1 | Saudi Arabia | Male | No | Yes | Global developmental delay; Hypotonia; A... Global developmental delay; Hypotonia; Abnormal facial shape; Talipes equinovarus  | NM_002968.3:c.448AGC[15] | Heterozygous | Autosomal, Dominant | Monies et al. 2017 |