Visualize Submit Comment
Metadata
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.
https://www.ncbi.nlm.nih.gov/pubmed/29100083
Xrefs

OMIM:617831

Parent Relationships

is_a syndromic intellectual disability

Add an item to the term tracker