OBO ID: DOID:0080138
Term Name: multiple congenital anomalies-hypotonia-seizures syndrome 1 Search Ontology:
Synonyms:
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
References:
Ontology: Human Disease   (DOID:0080138)
OTHER multiple congenital anomalies-hypotonia-seizures syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None