Nijmegen breakage syndrome
MONDO:0009623Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
Also known as: AT V1, Berlin breakage syndrome, NBS, NBs, Nijmegen breakage syndrome, Seemanova syndrome, Seemanova syndrome type 2, ataxia-telangiectasia, variant 1
4 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
DNA repair disease
(13)
Developmental defect during embryogenesis
(8)
Autosomal recessive disease
(4)
Disease of genetic or genomic mechanism
(2)
Multiple congenital anomalies/dysmorphic syndrome
(1)