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Human Disease

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
Ontology
Human Disease   ( DOID:0080503 )
Relationships
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Zebrafish Models