| Term Name: | acromesomelic dysplasia 4 |
|---|---|
| Synonyms: | |
| Definition: | An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. |
| Ontology: | Human Disease [DOID:0081238] ( DOID:0081238 ) |