ODCs

Cytoscape Web

Click node...

20p12.3 microdeletion syndrome

1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Multiple synostoses syndrome

3 OMIM references -
3 associated genes
10 signs/symptoms

20p12.3 microdeletion syndrome

Multiple synostoses syndrome

BMP2	(UniProt - OMIM)		FGF9	(UniProt - OMIM)
			GDF5	(UniProt - OMIM)
			NOG	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMP2	(0.85)	NOG

Citations in the biomedical literature:

20p12.3 microdeletion syndrome		Multiple synostoses syndrome
	Synonym(s): - Del(20)(p12.3) - Monosomy 20p12.3		Synonym(s): - Deafness - symphalangism syndrome, Hermann type - Facio-audio-symphalangism - Symphalangism - brachydactyly - WL syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Broad / bifid thumb

20p12.3 microdeletion syndrome		Multiple synostoses syndrome
	Very frequent - Hypertelorism - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epicanthic folds - Flat cheek bones / malar hypoplasia - Hypoplastic maxillary bones / zygomatic bones / maxillary 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 - Dilated cerebral ventricles without hydrocephaly - Helix thickened / sculpted - Hypotonia - Long philtrum - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Pectus carinatum - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Autosomal dominant inheritance - Conductive deafness / hearing loss - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Symphalangy of fingers Frequent - Cone epiphyses / epiphysis - Simian crease / transverse / unique palmar crease Occasional - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Nails anomalies