Term Name: multiple congenital anomalies-hypotonia-seizures syndrome 3
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 )

Relationships
is a type of: autosomal recessive disease multiple congenital anomalies-hypotonia-seizures syndrome