RBSN

rabenosyn, RAB effector
OMIM: 609511
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intellectual disability, MONDO:0001071