OBO ID: DOID:0111715 |
Term Name: | Schaaf-Yang syndrome | Search Ontology: | |
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Synonyms: |
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Definition: | A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. https://www.ncbi.nlm.nih.gov/pubmed/27195816 | ||
References: |
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Ontology: | Human Disease ( DOID:0111715 ) |
OTHER Schaaf-Yang syndrome PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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MAGEL2 | Schaaf-Yang syndrome |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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