OBO ID: DOID:0080227 |
Term Name: | autosomal dominant intellectual developmental disorder 55 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0080227 ) |
OTHER autosomal dominant intellectual developmental disorder 55 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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