ODCs

Click node...

1 OMIM reference -
3 associated genes
3 signs/symptoms

PROTEIN INTERACTIONS: 2

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

Potocki-Shaffer syndrome

Proximal spinal muscular atrophy type 4


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EXT2 EXT2	(0.63) (0.63)	SMN1 SMN2

Citations in the biomedical literature:

Potocki-Shaffer syndrome		Proximal spinal muscular atrophy type 4
	Synonym(s): - 11p11.2 deletion - Proximal 11p deletion syndrome		Synonym(s): - SMA-IV - SMA4 - Spinal muscular atrophy, adult form

	Classification (Orphanet): - 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: unknown		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538356		External references: 1 OMIM reference - No MeSH references

Potocki-Shaffer syndrome
	Very frequent - Exostoses - Intellectual deficit / mental / psychomotor retardation / learning disability - Poorly ossified skull / calvarium
Proximal spinal muscular atrophy type 4
(no data available)