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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

GARD:12781

OMIM:PS614080

ORDO:280633

Subsets

DO_rare_slim

Parent Relationships

is_a lipid metabolism disorder

is_a physical disorder

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