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C6 deficiency, subtotal

MedGen UID:: 382796
•Concept ID:: C2676233
•: Disease or Syndrome

Synonym:	COMPLEMENT COMPONENT 6 DEFICIENCY, SUBTOTAL

OMIM®:	217050; 612446

Recent clinical studies

Diagnosis

Late presentation of subtotal C6 deficiency in a patient with recurrent Neisseria meningitides infections.

Rosenfield L, Cvetkovic A, Woodward K, Quirt J
Ann Allergy Asthma Immunol 2018 Apr;120(4):432-433. doi: 10.1016/j.anai.2018.01.014. PMID: 29625666

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C6 deficiency, subtotal
C6 deficiency, subtotal

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C2676233[conceptid] (1)
MedGen
"C6 A/B POLYMORPHISM"[Disease/phenotype] AND "OMIM"[submitter] (1)
ClinVar
"C3S/C3F POLYMORPHISM"[Disease/phenotype] AND "OMIM"[submitter] (1)
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