ACO2

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
Infantile cerebellar-retinal degeneration, 614559
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
INFANTILE CEREBELLAR-RETINAL DEGENERATION
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile cerebellar-retinal degeneration, 614559
R-numbers: R41, R42.2
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 9, 616289, optic atrophy, nystagmus, Infantile cerebellar-retinal degeneration
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile cerebellar-retinal degeneration, 614559
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile cerebellar-retinal degeneration, 614559