congenital myasthenic syndrome 10
Findings
No curated finding names congenital myasthenic syndrome 10 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 DOK7 gene.
Definition from the Mondo Disease Ontology (MONDO:0009690), read 2026-09-29. CC BY 4.0.
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
7 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.
- Weakness of facial musculatureHPOHP:0030319
- 19 of 19 reported patients
- Axial muscle weaknessHPOHP:0003327
- 16 of 18 reported patients
- PtosisHPOHP:0000508
- 13 of 19 reported patients
- Reduced vital capacityHPOHP:0002792
- 4 of 10 reported patients
- Tongue atrophyHPOHP:0012473
- 4 of 10 reported patients
- Anti-neuromuscular Junction acetylcholine receptor antibody positivityHPOHP:0030208
- 0 of 19 reported patients
- Fatigable weaknessHPO
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.
- DOK7HGNC:26594
- Definitive · Ambry Genetics · Autosomal recessive · 2017
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
6 names
Resolves to: congenital myasthenic syndrome 10
- Also called
- CMS10congenital muscular dystrophy merosin-positivecongenital myasthenic syndrome caused by mutation in DOK7congenital myasthenic syndrome type 10DOK7 congenital myasthenic syndromemyasthenic syndrome, congenital, type 10