neurogenic scapuloperoneal syndrome, Kaeser type
MONDO:0008407Mondo
Findings
No curated finding names neurogenic scapuloperoneal syndrome, Kaeser type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
9 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.
- Scapuloperoneal weaknessHPOHP:0003704
- 13 of 15 reported patients
- Shoulder girdle muscle atrophyHPOHP:0003724
- 13 of 15 reported patients
- Rimmed vacuolesHPOHP:0003805
- 6 of 8 reported patients
- GynecomastiaHPOHP:0000771
- 3 of 9 reported patients · Male
- Z-band streamingHPOHP:0020203
- 1 of 3 reported patients
- DysphagiaHPOHP:0002015
- 2 of 15 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 2 of 15 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 2 of 15 reported patients
- Peroneal muscle atrophyHPOHP:0009049
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.
- DESHGNC:2770
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: neurogenic scapuloperoneal syndrome, Kaeser type
- Also called
- Kaeser syndromestark-Kaeser syndrome