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Congenital muscular dystrophy, Ullrich type
1 OMIM reference -
3 associated genes
34 connected diseases
No signs/symptoms info
Disease Type of connection
Bethlem myopathy
Congenital stromal corneal dystrophy
Bilateral striopallidodentate calcinosis
Dermatofibrosarcoma protuberans
Familial multiple meningioma
Autosomal recessive limb-girdle muscular dystrophy type 2B
Chuvash erythrocytosis
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Miyoshi myopathy
Von Hippel-Lindau disease
Cobblestone lissencephaly without muscular or ocular involvement
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Familial avascular necrosis of femoral head
Fibronectin glomerulopathy
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Nodulosis-arthropathy-osteolysis syndrome
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Torg-Winchester syndrome
- Scleroatonic muscular dystrophy
- Ullrich disease

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
COL6A1 P12109120220
COL6A2 P12110120240
COL6A3 P12111120250
No signs/symptoms info available.