MFF

mitochondrial fission factor
OMIM: 614785
PanelMode of inheritanceDetails
6 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086, Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
R-numbers: R41, R42.2
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086