FILIP1

filamin A interacting protein 1
OMIM: 607307
PanelMode of inheritanceDetails
2 panels
R-numbers: R83
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
arthrogryposis multiplex congenita, MONDO:0015168
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intellectual disability, MONDO:0001071