multiple congenital anomalies-hypotonia-seizures syndrome 1

Term ID

DOID:0080138

Synonyms

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

References

• OMIM:614080

Ontology

Human Disease   ( DOID:0080138 )