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A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in RNF13 on chromosome 3q25.1.

obo:hasDbXref

url:https://pubmed.ncbi.nlm.nih.gov/30595371/