ZFIN Human Disease: multiple congenital anomalies-hypotonia-seizures syndrome

OBO ID: DOID:0080503

OBO ID: DOID:0080503

Term Name:	multiple congenital anomalies-hypotonia-seizures syndrome	Search Ontology:
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

is a type of:

has subtype:

OTHER multiple congenital anomalies-hypotonia-seizures syndrome PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None