ROBO1

roundabout guidance receptor 1
OMIM: 602430
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MONDO:0957210, ROBO1-related neurooculorenal syndrome, OMIM:620305.0
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurooculorenal syndrome, OMIM:620305
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, MONDO:0001071, Neurooculorenal syndrome, OMIM:620305