MSTO1

misato 1, mitochondrial distribution and morphology regulator
OMIM: 617619
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital muscular dystrophy with Brain involvment, Myopathy, mitochondrial, and ataxia, 617675
R-numbers: R54
Signed-off version 2.13
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial myopathy and ataxia, 617675
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial, and ataxia, 617675
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial, and ataxia, 617675
R-numbers: R63
Signed-off version 1.17
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial, and ataxia, 617675