multiple congenital anomalies-hypotonia-seizures syndrome

Term ID

DOID:0080503

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. https://www.ncbi.nlm.nih.gov/pubmed/29974678

References

GARD:12781
OMIM:PS614080
ORDO:280633

Ontology

Human Disease ( DOID:0080503 )

Relationships

is a type of: lipid metabolism disorder physical disorder

lipid metabolism disorder physical disorder Show first 5 Terms
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

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 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations