myasthenic syndrome, congenital, 22
MONDO:0044299Mondo
Findings
No curated finding names myasthenic syndrome, congenital, 22 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
8 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.
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Tented upper lip vermilionHPOHP:0010804
- 1 of 1 reported patient
- Waddling gaitHPOHP:0002515
- 1 of 1 reported patient
- Anti-neuromuscular Junction acetylcholine receptor antibody positivityHPOHP:0030208
- 0 of 1 reported patient
- CystinuriaHPOHP:0003131
- 0 of 1 reported patient
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.
- PREPLHGNC:30228
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · Illumina · Autosomal recessive · 2019