Term Name: | multiple congenital anomalies-hypotonia-seizures syndrome 3 |
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Synonyms: | light fixation seizure syndrome, M syndrome |
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. |
Ontology: | Human Disease [DOID:0080140] ( DOID:0080140 ) |