| Metadata | |
|---|---|
| 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 |
| Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |