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Up to: Autosomal recessive cerebellar ataxia
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.
This condition has no sub-types.