| Metadata | |
|---|---|
| ID | DOID:0080138 |
| Name | multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| 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 |
| Xrefs | |
| Parent Relationships |
is_a multiple congenital anomalies-hypotonia-seizures syndrome |