TNR

PanelMode of inheritanceDetails
3 panels
R-numbers: R57
Signed-off version 8.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, OMIM:619653
R-numbers: R61
Signed-off version 9.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, OMIM:619653
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, OMIM:619653