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Echinobase
Summary Literature (0)
DOID:0070347 - encephalopathy due to defective mitochondrial and peroxisomal fission 1

Disease Ontology Definition:A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood.

Synonyms:

Echinobase Genes :


OMIM:
MIM:614388 - encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission; empf

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a)