LIG4 syndrome
Engelsk navn: LIG4 syndrome
Engelske synonym: DNA ligase IV deficiency,Ligase 4 syndrome
Definisjon
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).
Fra Orphanet
ORPHA: 99812
Klassifiseringsnivå: Disorder
ICD-10: D81.1
Mer informasjon
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