Ullrich congenital muscular dystrophy 1B
MONDO:0958235Mondo
Findings
No curated finding names Ullrich congenital muscular dystrophy 1B 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 · Infantile onset · Neonatal onset · Antenatal onset
HPO, annotations 2026-09-02
Features
36 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.
- Ankle contractureHPOHP:0034677
- 1 of 1 reported patient
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Finger joint hypermobilityHPOHP:0006094
- 7 of 7 reported patients
- Hip contractureHPOHP:0003273
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 5 of 5 reported patients
- Increased endomysial connective tissueHPOHP:0100297
- 3 of 3 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 4 of 4 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
- Muscle fiber necrosisHPOHP:0003713
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
Show the remaining 24
- Neck flexor weaknessHPOHP:0003722
- 1 of 1 reported patient
- Proximal muscle weaknessHPOHP:0003701
- 2 of 2 reported patients
- Reduced muscle collagen VIHPOHP:0030095
- 1 of 1 reported patient
- Respiratory failureHPOHP:0002878
- 1 of 1 reported patient
- Shoulder contractureHPOHP:0034665
- 1 of 1 reported patient
- Skeletal muscle atrophyHPOHP:0003202
- 2 of 2 reported patients
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.
- COL6A2HGNC:2212
- Definitive · G2P · Autosomal recessive · 2024
- Definitive · G2P · Autosomal dominant · 2025