ALDH5A1

aldehyde dehydrogenase 5 family member A1
OMIM: 610045
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY 271980
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Succinic semialdehyde dehydrogenase deficiency OMIM:271980, succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Succinic semialdehyde dehydrogenase deficiency OMIM:271980, succinic semialdehyde dehydrogenase deficiency MONDO:0010083
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Succinic semialdehyde dehydrogenase deficiency OMIM:271980, succinic semialdehyde dehydrogenase deficiency MONDO:0010083