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Potocki-Shaffer syndrome

1 OMIM reference -
3 associated genes
3 signs/symptoms

COMMON GENES: 1

Parietal foramina

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

Potocki-Shaffer syndrome

Parietal foramina

ALX4	(UniProt - OMIM)		ALX4	(UniProt - OMIM)
EXT2	(UniProt - OMIM)		MSX2	(UniProt - OMIM)
PHF21A	(UniProt - OMIM)


COMMON GENES	ALX4

Citations in the biomedical literature:

Potocki-Shaffer syndrome		Parietal foramina
	Synonym(s): - 11p11.2 deletion - Proximal 11p deletion syndrome		Synonym(s): - Catlin marks - Enlarged parietal foramina - Foramina parietalia permagna - Hereditary cranium bifidum

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C538356		External references: 3 OMIM references - No MeSH references

Potocki-Shaffer syndrome
	Very frequent - Exostoses - Intellectual deficit / mental / psychomotor retardation / learning disability - Poorly ossified skull / calvarium
Parietal foramina
(no data available)