Schimke immuno-osseous dysplasia

Defects in SMARCAL1 are a cause of schimke immuno-osseous dysplasia [mim:242900].

Alternative names

SIOD

chondroitin-6-sulfate mucopolysacharidosis, Immuno osseous dysplasia schimke type, Schimke syndrome, Spondyloepiphyseal dysplasia nephrotic syndrome

Classification

  • Combined B and T cell immunodeficiencies
    • Other

Inheritance

Autosomal recessive

OMIM

*606622 SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A-like protein 1; SMARCAL1

#242900 Immunoosseous dysplasia, Schimke type

Cross references

Phenotypically related immunodeficiencies

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Incidence

Incidence is not known yet.