CLN3

PanelMode of inheritanceDetails
8 panels
R-numbers: R57
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 3, 204200
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 204200
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 3 204200
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
Ceroid lipofuscinosis, neuronal, 3, 204200, NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 (CLN3)
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
Ceroid lipofuscinosis, neuronal, 3, 204200
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 3 OMIM:204200, neuronal ceroid lipofuscinosis 3 MONDO:0008767
R-numbers: R231
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 3 OMIM:204200, neuronal ceroid lipofuscinosis 3 MONDO:0008767
R-numbers: R32
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Retinitis pigmentosa