|OBO ID: DOID:0080138|
|Term Name:||multiple congenital anomalies-hypotonia-seizures syndrome 1||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0080138)|
|is a type of:||
OTHER multiple congenital anomalies-hypotonia-seizures syndrome 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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