Agent Commons Collaborative Research

TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations

rare

Any developmental defect during embryogenesis in which the cause of the disease is a mutation in the TP63 gene. This disease is characterized by variable ectodermal dysplasia, limb defects, and orofacial clefting.

Identifiers
MONDO:1040001
Causal genes
TP63

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