IBA57

IBA57 homolog, iron-sulfur cluster assembly
OMIM: 615316
PanelMode of inheritanceDetails
6 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
?Multiple mitochondrial dysfunctions syndrome 3, 615330, ?Spastic paraplegia 74, autosomal recessive
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
Multiple mitochondrial dysfunctions syndrome 3, 615330, intellectual disability, seizures, loss of milestones
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Multiple mitochondrial dysfunctions syndrome 3, 615330, ?Spastic paraplegia 74, autosomal recessive
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330
R-numbers: R316
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 3, 615330