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20p12.3 microdeletion syndrome

1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Brachydactyly type C

1 OMIM reference -
2 associated genes
11 signs/symptoms

20p12.3 microdeletion syndrome

Brachydactyly type C

BMP2	(UniProt - OMIM)		BMPR1B	(UniProt - OMIM)
			GDF5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMP2	(0.9)	BMPR1B

Citations in the biomedical literature:

20p12.3 microdeletion syndrome		Brachydactyly type C
	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 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: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537093


COMMON SIGNS	- Short stature / dwarfism / nanism

20p12.3 microdeletion syndrome		Brachydactyly type C
	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 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 - Long philtrum - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Pectus carinatum - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign - Short hand / brachydactyly - Ulnar deviation of fingers Frequent - Cone epiphyses / epiphysis - Short foot / brachydactyly of toes - Thin / hypoplastic / hyperconvex fingernails Occasional - Clinodactyly of fifth finger - Symphalangy of fingers - Talipes-valgus