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GTR Home > Conditions/Phenotypes > Spondyloepimetaphyseal dysplasia, aggrecan type

Spondyloepimetaphyseal dysplasia, aggrecan type

Synonyms
SEMD, AGGRECAN TYPE
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A new form of skeletal dysplasia with manifestations of severe short stature, facial dysmorphism and characteristic radiographic findings. To date, three cases have been described, all originating from the same family. The disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene; chromosome 15) which regulates endochondral ossification. Transmission is autosomal recessive. [from SNOMEDCT_US]

Available tests

14 tests are in the database for this condition.

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Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK, SSOAOD, ACAN
    Summary: aggrecan

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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