OBO ID: DOID:0080227
Term Name: autosomal dominant intellectual developmental disorder 55 Search Ontology:
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:
Ontology: Human Disease   ( DOID:0080227 )
OTHER autosomal dominant intellectual developmental disorder 55 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NUS1 Intellectual developmental disorder, autosomal dominant 55, with seizures 617831
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None