Cardiac, Facial, and Digital Anomalies with Developmental Delay

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the TRAF7 gene, encoding E3 ubiquitin-protein ligase TRAF7. It is characterized by developmental delay, cardiac, facial, and digital anomalies.

**Synonyms:** - CAFDADD - TRAF7 Syndrome