LYRM7

LYR motif containing 7
OMIM: 615831
PanelMode of inheritanceDetails
5 panels
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
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 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 8, 615838
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
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 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 8, 615838
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
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