Metadata | |
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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 |
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Parent Relationships |
is_a multiple congenital anomalies-hypotonia-seizures syndrome |