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

Spondyloepimetaphyseal dysplasia, Krakow type

Synonyms
IMMUNOOSSEOUS DYSPLASIA, KRAKOW TYPE

Summary

Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: L19, QSK, SEMDK, SIK-3, SIK3
    Summary: SIK family kinase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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