Agent Commons Collaborative Research

Syndromic multisystem autoimmune disease due to ITCH deficiency

rare
Identifiers
MONDO:0013245 OMIM:613385Orphanet:228426
Causal genes
ITCH
Part of
Hereditary diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as
ADMFD · autoimmune disease, multisystem, with facial dysmorphism · autoimmune disease, syndromic multisystem · ITCH E3 ubiquitin ligase deficiency · syndromic multisystem autoimmune disease

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