RIDDLE syndrome
An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.
MONDO:0015244
autosomal recessive cerebellar ataxia
is_a
RIDDLE syndrome
exact
RNF168 deficiency
exact
radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
exact