Terminology Service for NFDI4Health
LIG4 Syndrome
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http://purl.obolibrary.org/obo/NCIT_C122657
A very rare genetic disorder caused by mutation in the LIG4 gene. It is characterized by unusual facial features, microcephaly, growth and developmental delay, severe immunodeficiency, and skin abnormalities. [ ]
Term info
Label
LIG4 Syndrome
Synonyms
- LIG4 Syndrome
Preferred Name
LIG4 Syndrome
Semantic Type
Disease or Syndrome
UMLS CUI
C1847827
code
C122657