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GTR Home > Conditions/Phenotypes > Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

Synonyms
Encephalopathy due to defective mitochondrial and peroxisomal fission 1; Lethal Encephalopathy Due To Defective Mitochondrial Peroxisomal Fission
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Encephalopathy due to defective mitochondrial and peroxisomal fission-1 (EMPF1) is characterized by delayed psychomotor development and hypotonia that may lead to death in childhood. Many patients develop refractory seizures, consistent with an epileptic encephalopathy, and thereafter show neurologic decline. The age at onset, features, and severity are variable, and some patients may not have clinical evidence of mitochondrial or peroxisomal dysfunction (summary by Sheffer et al., 2016; Fahrner et al., 2016). Genetic Heterogeneity of Encephalopathy Due to Defective Mitochondrial And Peroxisomal Fission See also EMPF2 (617086), caused by mutation in the MFF gene (614785) on chromosome 2q36. [from OMIM]

Available tests

49 tests are in the database for this condition.

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Clinical tests (49 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DLP1, DRP1, DVLP, DYMPLE, EMPF, EMPF1, HDYNIV, OPA5, DNM1L
    Summary: dynamin 1 like

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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