multiple congenital anomalies-hypotonia-seizures syndrome 3

Term ID

DOID:0080140

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. (2)

References

• OMIM:615398

Ontology

Human Disease   ( DOID:0080140 )