LYRM7

LYR motif containing 7
OMIM: 615831
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 8, MIM#615838
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 8, Isolated complex III deficiency, severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle, leukoencephalopathy and complex III deficiency, 615838
R-numbers: R355
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 8, 615838
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex III deficiency, Mitochondrial complex III deficiency, nuclear type 8, 615838, leukoencephalopathy and complex III deficiency, severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 8, 615838
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 8, leukoencephalopathy and complex III deficiency, 615838, severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle