Nijmegen breakage syndrome
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
ataxia-telangiectasia, variant 1
exact
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
immunodeficiency-microcephaly-chromosomal instability syndrome
exact
microcephaly immunodeficiency lymphoreticuloma
related
microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies
related
SPBC6B1.09c