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Disease Ontology Browser
multiple congenital anomalies-hypotonia-seizures syndrome (DOID:0080503)
Alliance: disease page
Alt IDs: OMIM:PS614080, ORDO:280633
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory