|OBO ID: DOID:0080140|
|Term Name:||multiple congenital anomalies-hypotonia-seizures syndrome 3||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 that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/21493957|
|Ontology:||Human Disease (DOID:0080140)|
|is a type of:||
OTHER multiple congenital anomalies-hypotonia-seizures syndrome 3 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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