Disease - Townes-Brocks syndrome 2
- DefinitionA form of Townes-Brocks syndrome, a rare autosomal dominant disease 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.
- AcronymTBS2
- Cross references
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Browse 1 entry- Dapper homolog 1 · Gene: DACT1 (DPR1, HNG3) · Homo sapiens (Human) · 836 amino acids · Evidence at protein level · Annotation score: 5/5