Search Ontology:
Human Disease
multiple congenital anomalies-hypotonia-seizures syndrome
- Term ID
- DOID:0080503
- Synonyms
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- 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
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- GARD:12781
- MIM:PS614080
- ORDO:280633
- Ontology
- Human Disease ( DOID:0080503 )
- is a type of
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- has subtype
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Genes Involved
Zebrafish Models