ODCs

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1 OMIM reference -
1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
3 associated genes
7 signs/symptoms

Spondylometaphyseal dysplasia, Schmidt type

Bethlem myopathy


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

Citations in the biomedical literature:

Spondylometaphyseal dysplasia, Schmidt type		Bethlem myopathy
	Synonym(s): - Spondylometaphyseal dysplasia with severe genu valgum - Spondylometaphyseal dysplasia, Algerian type		Synonym(s): - Benign autosomal dominant myopathy

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

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

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

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


COMMON SIGNS	- Autosomal dominant inheritance

Spondylometaphyseal dysplasia, Schmidt type		Bethlem myopathy
	Very frequent - Genu valgum - Kyphosis - Metaphyseal anomaly - Myopia - Scoliosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Abnormal vertebral size / shape - Joint / articular deformation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality		Very frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Camptodactyly of fingers - Myopathy - Restricted joint mobility / joint stiffness / ankylosis - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy