Search
acromesomelic chondrodysplasia Grebe type
Genetics:
- autosomal recessive
- associated with defects in GDF5
Clinical manifestations:
- see acromesomelic chondrodysplasia
- normal axial skeletons & missing or fused skeletal elements within the hands & feet
General
acromesomelic chondrodysplasia
Database Correlations
OMIM 200700
References
UniProt :accession P43026