Search
Carpenter syndrome (acrocephalopolysyndactyly type 2)
Pathology:
- autosomal recessive
- associated with defects in RAB23
Clinical manifestations:
- craniosynostosis,
- polysyndactyly
- obesity
- cardiac defects
General
acrocephalopolysyndactyly
Database Correlations
OMIM 201000
References
OMIM :accession 201000