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 )

Relationships
is a type of: acromesomelic dysplasia autosomal recessive disease