ADPRHL2

ADP-ribosylhydrolase like 2
OMIM: 610624
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 7.19
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.54
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
R-numbers: R78
Signed-off version 6.163
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, OMIM:618170, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MONDO:0100095