congenital myasthenic syndrome 17
Findings
No curated finding names congenital myasthenic syndrome 17 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 LRP4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014578), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital 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.
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulationHPOHP:0003403
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- HyporeflexiaHPOHP:0001265
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Type 1 muscle fiber predominanceHPO
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.
- LRP4HGNC:6696
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
Where it sits
Other names
5 names
Resolves to: congenital myasthenic syndrome 17
- Also called
- CMS17congenital myasthenic syndrome caused by mutation in LRP4congenital myasthenic syndrome type 17LRP4 congenital myasthenic syndromemyasthenic syndrome, congenital, type 17