DNAJC5

DnaJ heat shock protein family (Hsp40) member C5
OMIM: 611203
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ceroid lipofuscinosis, neuronal, 4, Parry type
R-numbers: R54
Signed-off version 2.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ceroid neuronal lipofuscinosis 4, Parry type, 162350, Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
R-numbers: R276
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
R-numbers: R58
Signed-off version 2.31
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
R-numbers: R231
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes