MINPP1

multiple inositol-polyphosphate phosphatase 1
OMIM: 605391
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia
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
Pontocerebellar hypoplasia
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
Pontocerebellar hypoplasia
R-numbers: R88
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia