Also known as: CID due to STK4 deficiency, MST1 deficiency, STK4 deficiency, T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations, T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, TIIAC
Also known as: IMD48, STCD, ZAP-70 deficiency, immunodeficiency 48, selective T-cell defect, severe combined immunodeficiency due to ZAP70 deficiency, zeta-associated-protein 70 deficiency
Also known as: ROIFMAN-Chitayat syndrome, Roifman-Chitayat syndrome, Roifman-Chitayat syndrome, digenic, combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay
Also known as: CCHIDG, CID due to RAG 1/2 deficiency, combined cellular and humoral immune defects with granulomas, combined immunodeficiency due to RAG 1/2 deficiency
Also known as: CIDX, Xcid, combined immunodeficiency, X-linked, combined immunodeficiency, X-linked, moderate, X-linked recessive, immunodeficiency 6
Also known as: CMAMMA, combined malonic and methylmalonic acidemia, combined malonic and methylmalonic aciduria
Also known as: COXPD11, Encephaloneuromyopathy, infantile, due to mitochondrial translation defect, RMND1 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation defect type 11, combined oxidative phosphorylation deficiency 11, combined oxidative phosphorylation deficiency caused by mutation in RMND1, combined oxidative phosphorylation deficiency type 11
Also known as: COXPD13, PNPT1 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 13, combined oxidative phosphorylation deficiency caused by mutation in PNPT1, combined oxidative phosphorylation deficiency type 13
Also known as: COXPD14, FARS2 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 14, combined oxidative phosphorylation deficiency caused by mutation in FARS2, combined oxidative phosphorylation deficiency type 14
Also known as: COXPD15, MTFMT combined oxidative phosphorylation deficiency, combined oxidative phosphorylation defect type 15, combined oxidative phosphorylation deficiency 15, combined oxidative phosphorylation deficiency caused by mutation in MTFMT, combined oxidative phosphorylation deficiency type 15
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