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5q14.3 microdeletion syndrome
1 OMIM reference -
1 associated gene
23 connected diseases
25 signs/symptoms
Disease Type of connection
2q37 microdeletion syndrome
Helicoid peripapillary chorioretinal degeneration
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Hypotrichosis - lymphedema - telangiectasia
Focal facial dermal dysplasia
Peters anomaly
Spinocerebellar ataxia type 18
Autosomal dominant secondary polycythemia
Haddad syndrome
Multiple paragangliomas associated with polycythemia
Ondine syndrome
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Atrial septal defect, ostium secundum type
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Familial atrial fibrillation
Partial atrioventricular canal
Single ventricular septal defect
Tetralogy of Fallot
Synonym(s):
- Del(5)(q14.3)
- Monosomy 5q14.3
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MEF2C Q06413600662
Very frequent
- Autism / autistic disoders
- Broad forehead
- High forehead
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- Short philtrum
- Short / small nose
- Structural anomalies of the nervous system
- Tics / stereotypias
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Anteverted nares / nostrils
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Deepset eyes / enophthalmos
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Mouth held open
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Strabismus / squint
- Syndactyly of toes
- Thick / bushy eyebrows