Version: 8.0.0
Date: Tue Jan 28 2025
encephalopathy due to defective mitochondrial and peroxisomal fission 1
DOID:0070347
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

encephalopathy due to defective mitochondrial and peroxisomal fission 1

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
None
Cross References
Parent Terms
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Sources of Associations

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