MCM3AP

minichromosome maintenance complex component 3 associated protein
OMIM: 603294
PanelMode of inheritanceDetails
2 panels
R-numbers: R78
Signed-off version 1.36
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124