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syndromic multisystem autoimmune disease
Pathology:
- autoimmune inflammatory cell infiltration of the lungs, liver & gut
Genetics:
- associated with defects in ITCH
Clinical manifestations:
- organomegaly
- failure to thrive
- developmental delay
- dysmorphic features
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 613385
References
OMIM :accession 613385