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acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)

Pathology: - ectrodactyly, syndactyly, fingernail & toenail dysplasia, hypoplastic breasts & nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia, & loss of permanent teeth - absence of facial clefting Genetics: - associated with defects in TP63

General

genetic syndrome (multisystem disorder) ectodermal dysplasia

Database Correlations

OMIM 103285

References

  1. OMIM :accession 103285
  2. UniProt :accession Q9H3D4