OBO ID: DOID:0080503 |
Term Name: | multiple congenital anomalies-hypotonia-seizures syndrome | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0080503 ) |
OTHER multiple congenital anomalies-hypotonia-seizures syndrome PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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