ODCs

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1 OMIM reference -
1 associated gene
8 signs/symptoms

COMMON GENES: 1

1 OMIM reference -
1 associated gene
5 signs/symptoms

Autosomal dominant brachyolmia

Autosomal dominant congenital benign spinal muscular atrophy

Citations in the biomedical literature:

Autosomal dominant brachyolmia		Autosomal dominant congenital benign spinal muscular atrophy
	Synonym(s): - Brachyolmia type 3		Synonym(s): - Autosomal dominant benign distal spinal muscular atrophy - Congenital benign spinal muscular atrophy with contractures - Congenital nonprogressive spinal muscular atrophy

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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

Autosomal dominant brachyolmia		Autosomal dominant congenital benign spinal muscular atrophy
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Kyphosis - Platyspondyly - Scoliosis - Short rib cage / thorax - Short stature / dwarfism / nanism Occasional - Metaphyseal anomaly		Very frequent - Autosomal recessive inheritance - Hypotonia - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Restricted joint mobility / joint stiffness / ankylosis - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy