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General Information
ZIRC
OBO ID: DOID:0080227
Term Name: autosomal dominant mental retardation 55 Search Ontology:
Synonyms:
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
References:
Ontology: Human Disease   (DOID:0080227)
OTHER autosomal dominant mental retardation 55 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NUS1 Mental retardation, autosomal dominant 55, with seizures 617831
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None