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GTR Home > Conditions/Phenotypes > Chondrodysplasia with joint dislocations, gPAPP type

Chondrodysplasia with joint dislocations, gPAPP type

Synonyms
Chondrodysplasia with Joint Dislocations, GRAPP Type; GPAPP DEFICIENCY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

The GPAPP-type of chondrodysplasia with joint dislocations is an autosomal recessive disorder characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism (Vissers et al., 2011). [from OMIM]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GPAPP, IMP 3, IMP-3, IMPA3, IMPAD1, BPNT2
    Summary: 3'(2'), 5'-bisphosphate nucleotidase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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