acromesomelic dysplasia-4

Term ID

DOID:0081238

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. https://pubmed.ncbi.nlm.nih.gov/33106379/

References

• OMIM:619636

Ontology

Human Disease   ( DOID:0081238 )