Term Name: multiple congenital anomalies-hypotonia-seizures syndrome
Synonyms:
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.
Ontology: Human Disease [DOID:0080503]   ( DOID:0080503 )

Relationships
is a type of: lipid metabolism disorder physical disorder
has subtype: multiple congenital anomalies-hypotonia-seizures syndrome 1 multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple congenital anomalies-hypotonia-seizures syndrome 3 multiple congenital anomalies-hypotonia-seizures syndrome 4