Search
rhizomelic chondrodysplasia punctata, type 3
Pathology:
- rhizomelic shortening of femur & humerus
- vertebral disorders
- cataracts
- cutaneous lesions
- severe mental retardation
Genetics:
- mutation in gene for alkyldihydroxyacetonephosphate synthase (AGPS)
General
rhizomelic chondrodysplasia punctata
Database Correlations
OMIM 600121
References
OMIM :accession 600121