Nijmegen breakage syndrome
AT V1
exact
Berlin breakage syndrome
exact
NBS
exact
NBs
exact
Nijmegen breakage syndrome
exact
Nonsyndromal microcephaly autosomal recessive with normal intelligence
related
Seemanova syndrome
exact
Seemanova syndrome type 2
exact
ataxia-telangiectasia, variant 1
exact
immunodeficiency-microcephaly-chromosomal instability syndrome
exact
microcephaly immunodeficiency lymphoreticuloma
related
microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies
related
Nijmegen 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.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0021190
DNA repair disease
is_a
SPBC6B1.09c