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McKusick-Kaufman syndrome (hydrometrocolpos syndrome, hydrometrocolpos, postaxial polydactyly, & congenital heart malformation)
Genetics:
- autosomal recessive
- mutation in MKKS gene on chromosome 20p12
Clinical manifestations:
- hydrometrocolpos
- postaxial polydactyly
- congenital heart defects
Related
Bardet-Biedl syndrome 6 protein; McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (MKKS, BBS6)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM correlations
MORBIDMAP 604896
References
OMIM :accession 236700