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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

OMIM:614080

Parent Relationships

is_a multiple congenital anomalies-hypotonia-seizures syndrome

is_a autosomal recessive disease

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