MAPK8IP3

mitogen-activated protein kinase 8 interacting protein 3
OMIM: 605431
PanelMode of inheritanceDetails
2 panels
R-numbers: R54
Signed-off version 2.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual Disability with variable brain anomalies, Neurodevelopmental disorder with or without variable brain abnormalities, 618443
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Abnormal muscle tone, Global developmental delay, Intellectual disability, Abnormality of nervous system morphology, Neurodevelopmental disorder with or without variable brain abnormalities, 618443