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Metadata
ID	DOID:0080140
Name	multiple congenital anomalies-hypotonia-seizures syndrome 3
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://pubmed.ncbi.nlm.nih.gov/36177944/, https://www.ncbi.nlm.nih.gov/pubmed/21493957
Xrefs	MIM:615398
Synonyms	light fixation seizure syndrome [EXACT] M syndrome [EXACT]
Parent Relationships	is_a multiple congenital anomalies-hypotonia-seizures syndrome is_a autosomal recessive disease