AP2M1

adaptor related protein complex 2 mu 1 subunit
OMIM: 601024
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Intellectual developmental disorder 60 with seizures, 618587, Seizures, Ataxia, Generalized hypotonia, Intellectual disability, Global developmental delay, Autistic behavior
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
Intellectual developmental disorder 60 with seizures, 618587, Seizures, Ataxia, Generalized hypotonia, Intellectual disability, Global developmental delay, Autistic behavior