ODCs

Click node...

1 OMIM reference -
1 associated gene
8 signs/symptoms

COMMON GENES: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Autosomal dominant brachyolmia

Autosomal dominant Charcot-Marie-Tooth disease type 2C

Citations in the biomedical literature:

Autosomal dominant brachyolmia		Autosomal dominant Charcot-Marie-Tooth disease type 2C
	Synonym(s): - Brachyolmia type 3		Synonym(s): - CMT2C

	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: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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

Autosomal dominant brachyolmia
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Kyphosis - Platyspondyly - Scoliosis - Short rib cage / thorax - Short stature / dwarfism / nanism Occasional - Metaphyseal anomaly
Autosomal dominant Charcot-Marie-Tooth disease type 2C
(no data available)