Synonym(s): - Dup(22)(q11) - Duplication 22q11.2 - Trisomy 22q11.2
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
TBX1	O43435	602054

- Autosomal dominant inheritance
- Total / partial trisomy / duplication

- Abnormal cry / voice / phonation disorder / nasal speech
- Anomaly of the pharynx / pharyngeal anomaly
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Epicanthic folds
- High forehead
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large / bulbous nose
- Mid-facial hypoplasia / short / small midface
- Narrow face
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

- Autism / autistic disoders
- Bifid / cleft ear lobe / ear lobe pits
- Broad nose / nasal bridge
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypoplastic left heart / ventricle
- Hypospadias / epispadias / bent penis
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Obsessive-compulsive disorder
- Philtrum flat / large / featureless / absent cupidon bows
- Ptosis
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Tetralogy of Fallot / trilogy of Fallot
- Thymic aplasia / hypoplasia
- Tics / stereotypias
- Transposition of great vessels
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis
- Ventricular septal defect / interventricular communication