Panel | Mode of inheritance | Details |
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1 panel | ||
R-numbers: R15 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), Syndromic multisystem autoimmune disease due to Itch deficiency, Early-onset chronic lung disease (interstitial pneumonitis), autoimmunity (thyroiditis, type I diabetes, chronic diarrhea/enteropathy, and hepatitis), failure to thrive, developmental delay, dysmorphic facial features, Diseases of Immune Dysregulation |