TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations

Findings

No curated finding names TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• developmental defect during embryogenesis
• hereditary disease

Narrower terms (5)

• ADULT syndrome
• ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
• Rapp-Hodgkin syndrome
• split hand-foot malformation 4