multiple congenital anomalies-hypotonia-seizures syndrome

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Summary

Literature (0)

DOID:0080503 - multiple congenital anomalies-hypotonia-seizures syndrome

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pign, piga, pigt

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): lipid metabolism disorder (is_a), physical disorder (is_a)