SSBP1

single stranded DNA binding protein 1
OMIM: 600439
PanelMode of inheritanceDetails
6 panels
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
R-numbers: R352
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
R-numbers: R41
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 13 with retinal and foveal abnormalities OMIM:165510
R-numbers: R63
Signed-off version 3.105
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
R-numbers: R32
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510