Terminology Service for NFDI4Health
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Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1

Go to external page http://purl.obolibrary.org/obo/NCIT_C156430

An autosomal recessive condition caused by mutation(s) in the DNMT3B gene, encoding DNA (cytosine-5)-methyltransferase 3B. It is characterized by immunoglobulin deficiency, centromeric instability of chromosomes 1,9, and 19 (rarely chromosome 2), and facial dysmorphism. [ ]

Term info

Label

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1

Synonyms
  • Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Preferred Name

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1

Semantic Type

Disease or Syndrome

UMLS CUI

C0398788

code

C156430