congenital myasthenic syndrome 7
Findings
No curated finding names congenital myasthenic syndrome 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014468), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
17 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
- 10 of 10 reported patients
- Decreased compound muscle action potential amplitudeHPOHP:0033383
- 8 of 9 reported patients
- HammertoeHPOHP:0001765
- 8 of 10 reported patients
- Compound muscle action potential amplitude facilitationHPOHP:0025680
- 6 of 8 reported patients
- Pes cavusHPOHP:0001761
- 7 of 10 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 6 of 10 reported patients
- Distal muscle weaknessHPO
Show the remaining 5
- Hearing impairmentHPOHP:0000365
- 2 of 10 reported patients
- Motor delayHPOHP:0001270
- 1 of 10 reported patients
- Pes planusHPOHP:0001763
- 1 of 10 reported patients
- Proximal amyotrophyHPOHP:0007126
- 1 of 10 reported patients
- HyporeflexiaHPOHP:0001265
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.
- SYT2HGNC:11510
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019
- Moderate · ClinGen · Autosomal dominant · 2023
Where it sits
Other names
5 names
Resolves to: congenital myasthenic syndrome 7
- Also called
- CMS7congenital myasthenic syndrome caused by mutation in SYT2congenital myasthenic syndrome type 7myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominantSYT2 congenital myasthenic syndrome