ODCs

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2 OMIM references -
3 associated genes
No signs/symptoms info

COMMON GENES: 1

1 associated gene
No signs/symptoms info

Distal hereditary motor neuropathy type 5

Severe neurodegenerative syndrome with lipodystrophy

Citations in the biomedical literature:

Distal hereditary motor neuropathy type 5		Severe neurodegenerative syndrome with lipodystrophy
	Synonym(s): - Distal spinal muscular atrophy type 5 - dHMN5		Synonym(s): - Severe neurodegenerative syndrome due to BSCL2 deficiency

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: - Average age onset: adolescence / young 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: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: No OMIM references No MeSH references

No signs/symptoms info available.