spinal muscular atrophy with congenital bone fractures 1
Findings
No curated finding names spinal muscular atrophy with congenital bone fractures 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014806), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AreflexiaHPOHP:0001284
- 2 of 2 reported patients
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 6 of 6 reported patients
- Decreased fetal movementHPOHP:0001558
- 4 of 4 reported patients · Fetal onset
- DysphagiaHPOHP:0002015
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 3 of 3 reported patients
- MicroretrognathiaHPO
Show the remaining 16
- HypertelorismHPOHP:0000316
- 3 of 4 reported patients
- Multiple prenatal fracturesHPOHP:0005855
- 3 of 4 reported patients
- OligohydramniosHPOHP:0001562
- 3 of 4 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 3 of 4 reported patients
- CardiomyopathyHPOHP:0001638
- 2 of 4 reported patients
- HypohidrosisHPOHP:0000966
- 3 of 6 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TRIP4HGNC:12310
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2016
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: spinal muscular atrophy with congenital bone fractures 1
- Also called
- prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4SMABF1spinal muscular atrophy with congenital bone fractures type 1spinal muscular atrophy, type I, with congenital bone fracturesTRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures