spinal muscular atrophy with congenital bone fractures 2
Findings
No curated finding names spinal muscular atrophy with congenital bone fractures 2 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 ASCC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014807), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
22 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.
- Abnormal cortical gyrationHPOHP:0002536
- 2 of 2 reported patients
- AreflexiaHPOHP:0001284
- 2 of 2 reported patients
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 2 of 2 reported patients
- Decreased fetal movementHPOHP:0001558
- 2 of 2 reported patients
- DysphagiaHPOHP:0002015
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Multiple prenatal fracturesHPOHP:0005855
Show the remaining 10
- Premature birthHPOHP:0001622
- 2 of 2 reported patients
- Pulmonary hypoplasiaHPOHP:0002089
- 2 of 2 reported patients
- Severe muscular hypotoniaHPOHP:0006829
- 2 of 2 reported patients
- Axonal lossHPOHP:0003447
- Flexion contractureHPOHP:0001371
- Increased variability in muscle fiber diameterHPOHP:0003557
- Peripheral axonal neuropathyHPOHP:0003477
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.
- ASCC1HGNC:24268
- Definitive · Illumina · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2026
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: spinal muscular atrophy with congenital bone fractures 2
- Also called
- ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fracturesprenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1SMABF2spinal muscular atrophy with congenital bone fractures type 2