SPART

PanelMode of inheritanceDetails
3 panels
R-numbers: R60
Signed-off version 1.27
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Troyer syndrome, Spastic paraplegia 20, autosomal recessive
R-numbers: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Troyer syndrome, 275900, Spastic paraplegia 20
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
Troyer syndrome, MIM:275900, developmental delay