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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866, Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209, Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806, ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066, Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866, Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209, Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806, ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066, Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866, Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209, Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806