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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	MIM:614080
Parent Relationships	is_a multiple congenital anomalies-hypotonia-seizures syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth