TRIP4

thyroid hormone receptor interactor 4
OMIM: 604501
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe congenital myopathy with congenital bone fractures, 616866, Spinal muscular atrophy with congenital bone fractures 1, 616866
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.30
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with congenital bone fractures 1 616866