U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Spondylometaphyseal dysplasia, pagnamenta type

Spondylometaphyseal dysplasia, pagnamenta type

Summary

Spondylometaphyseal dysplasia Pagnamenta type (SMDP) is characterized by short stature and mild platyspondyly with no disproportion between the limbs. Mild metaphyseal changes are present (Pagnamenta et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AMD4, PKG2, PRKGR2, SMDP, cGK2, cGKII, PRKG2
    Summary: protein kinase cGMP-dependent 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.