ODCs

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1 OMIM reference -
3 associated genes
3 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Potocki-Shaffer syndrome

Recurrent infection due to specific granule deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ALX4	(0.63)	CEBPE

Citations in the biomedical literature:

Potocki-Shaffer syndrome		Recurrent infection due to specific granule deficiency
	Synonym(s): - 11p11.2 deletion - Proximal 11p deletion syndrome		Synonym(s): - Neutrophil-specific granule deficiency

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: - Average age onset: neonatal/infancy Average age of death: - 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
Recurrent infection due to specific granule deficiency
(no data available)