Smith-McCort dysplasia 2

Term ID

DOID:0081271

Synonyms

Definition

A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. https://pubmed.ncbi.nlm.nih.gov/23042644/

References

• OMIM:615222

Ontology

Human Disease   ( DOID:0081271 )