autosomal dominant intellectual developmental disorder 55

Term ID

DOID:0080227

Synonyms

• autosomal dominant intellectual developmental disorder-55 with seizures
• autosomal dominant mental retardation 55

Definition

An autosomal dominant intellectual developmental disorder that is 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

References

• OMIM:617831

Ontology

Human Disease   ( DOID:0080227 )