ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

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

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Neurofibromatosis type 1 due to NF1mutation or intragenic deletion


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DYNC1H1	(0.14)	NF1

Citations in the biomedical literature:

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures		Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
	Synonym(s): - Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures - SMALED1		Synonym(s): - Von Recklinghausen disease due to NF1 mutation or intragenic deletion

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: adult 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

No signs/symptoms info available.