OBO ID: DOID:0080138 |
Term Name: | multiple congenital anomalies-hypotonia-seizures syndrome 1 | Search Ontology: | |
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Definition: | A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21. https://www.ncbi.nlm.nih.gov/pubmed/21493957 | ||
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Ontology: | Human Disease ( DOID:0080138 ) |
OTHER multiple congenital anomalies-hypotonia-seizures syndrome 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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