ODCs

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1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

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

Proximal spinal muscular atrophy type 3

Familial porencephaly


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMN1 SMN2	(0.63) (0.63)	COL4A2 COL4A2

Citations in the biomedical literature:

Proximal spinal muscular atrophy type 3		Familial porencephaly
	Synonym(s): - Juvenile spinal muscular atrophy - Kugelberg-Welander disease - SMA type 3 - SMA-III - SMA3		Synonym(s): (no synonyms)

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

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

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C536850

No signs/symptoms info available.