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ID DOID:0080227
Name autosomal dominant mental retardation 55
Definition A syndromic intellectual disability characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22.


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is_a syndromic intellectual disability

is_a autosomal dominant disease

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