Metadata | |
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ID | DOID:0080503 |
Name | multiple congenital anomalies-hypotonia-seizures syndrome |
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 |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a lipid metabolism disorder is_a physical disorder |