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Stickler syndrome type 3

1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

Atelosteogenesis type I

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

Stickler syndrome type 3

Atelosteogenesis type I

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A2	(0.63)	FLNB

Citations in the biomedical literature:

Stickler syndrome type 3		Atelosteogenesis type I
	Synonym(s): - Stickler syndrome, nonocular type		Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease

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

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537494		External references: 1 OMIM reference - 1 MeSH reference: C535396

Stickler syndrome type 3
	Very frequent - Articular / joint pain / arthralgia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat cheek bones / malar hypoplasia - Long philtrum - Mid-facial hypoplasia / short / small midface - Sensorineural deafness / hearing loss Frequent - Glossoptosis - Micrognathia / retrognathia / micrognathism / retrognathism - Osteoarthritis Occasional - Exostoses - Metacarpal anomalies / Archibald's sign - Pectus carinatum - Pectus excavatum
Atelosteogenesis type I
(no data available)