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Human Disease

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
Ontology
Human Disease   ( DOID:0080227 )
Relationships
is a type of
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Genes Involved
Zebrafish Models