LMBR1

limb development membrane protein 1
OMIM: 605522
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Triphalangeal thumb-polysyndactyly syndrome 174500, Laurin-Sandrow syndrome 135750, Hypoplastic or aplastic tibia with polydactyly 188740, Syndactyly, type IV 186200, Triphalangeal thumb, type I 174500, Polydactyly, preaxial type II 174500, Acheiropody 200500
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Syndactyly, type IV 186200, Laurin-Sandrow syndrome,135750, Acheiropody 200500, Triphalangeal thumb type I,174500, Triphalangeal thumb, type I 174500, Laurin-Sandrow syndrome 135750, Polydactyly, preaxial type II 174500, Hypoplastic or aplastic tibia with polydactyly 188740, Triphalangeal thumb-polysyndactyly syndrome 174500, Triphalangeal Thumb-Polysyndactyly Syndrome
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Laurin-Sandrow syndrome 135750, Polydactyly, preaxial type II 174500, Hypoplastic or aplastic tibia with polydactyly 188740, Triphalangeal thumb, type I 174500, Triphalangeal thumb-polysyndactyly syndrome 174500, Syndactyly, type IV 186200, Acheiropody 200500