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20p12.3 microdeletion syndrome

1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Stickler syndrome type 1

2 OMIM references -
1 associated gene
22 signs/symptoms

20p12.3 microdeletion syndrome

Stickler syndrome type 1

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMP2	(0.79)	COL2A1

Citations in the biomedical literature:

20p12.3 microdeletion syndrome		Stickler syndrome type 1
	Synonym(s): - Del(20)(p12.3) - Monosomy 20p12.3		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum

20p12.3 microdeletion syndrome		Stickler syndrome type 1
	Very frequent - Hypertelorism - Insterstitial / subtelomeric microdeletion / deletion Frequent - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epicanthic folds - Flat cheek bones / malar hypoplasia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Microstomia / little mouth - Short stature / dwarfism / nanism Occasional - Atrial septal defect / interauricular communication - Broad cheeks / cherub-like / cherubin face - Broad nasal root - Broad nose / nasal bridge - Broad / bifid big toe - Broad / bifid thumb - Dilated cerebral ventricles without hydrocephaly - Helix thickened / sculpted - Hypotonia - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Pectus carinatum - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Autosomal dominant inheritance - Cataract / lens opacification - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Myopia - Retinal detachment - Short / small nose - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Frequent - Articular / joint pain / arthralgia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Epiphyseal anomaly - Epiphyseal vertebral anomaly - Hyperextensible joints / articular hyperlaxity - Marfanoid morphotype - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Osteoarthritis - Platyspondyly - Proptosis / exophthalmos - Sensorineural deafness / hearing loss Occasional - Visual loss / blindness / amblyopia