ODCs

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1 OMIM reference -
3 associated genes
7 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
26 signs/symptoms

Bethlem myopathy

Spondyloepiphyseal dysplasia congenita


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL6A1	(0.52)	COL2A1

Citations in the biomedical literature:

Bethlem myopathy		Spondyloepiphyseal dysplasia congenita
	Synonym(s): - Benign autosomal dominant myopathy		Synonym(s): - Congenital spondyloepiphyseal dysplasia - SEDC - Spranger-Wiedemann disease

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535436		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Restricted joint mobility / joint stiffness / ankylosis

Bethlem myopathy		Spondyloepiphyseal dysplasia congenita
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Camptodactyly of fingers - Myopathy - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy		Very frequent - Abnormal vertebral size / shape - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia - Short neck - Short rib cage / thorax - Short stature / dwarfism / nanism Frequent - Broad forehead - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat face - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Lordosis - Osteoarthritis - Talipes-varus / metatarsal varus Occasional - Cataract / lens opacification - Glaucoma - Hearing loss / hypoacusia / deafness - Kyphosis - Myopia - Nystagmus - Retinal detachment - Scoliosis