multiple congenital anomalies-hypotonia-seizures syndrome (DOID:0080503)
Alliance: disease page
Alt IDs: OMIM:PS614080, ORDO:280633
Definition: A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies.