Synonym(s): - 2q32-q33 microdeletion syndrome - Del(2)(q32) - Del(2)(q32q33) - Monosomy 2q32 - Monosomy 2q32-q33 - Monosomy 2q32q33
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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
SATB2	Q9UPW6	608148

- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fine hair
- High forehead
- High nasal bridge
- High vaulted / narrow palate
- Hypotonia
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Thin / retracted lips
- Tooth shape anomaly

- Abnormal cry / voice / phonation disorder / nasal speech
- Anodontia / oligodontia / hypodontia
- Anteverted nares / nostrils
- Autism / autistic disoders
- Beaked nose
- Brachycephaly / flat occiput
- Broad / bifid big toe
- Broad / bifid thumb
- Clinodactyly of fifth finger
- Clinodactyly of toes
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hyperextensible joints / articular hyperlaxity
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Long face
- Long hand / arachnodactyly
- Long philtrum
- Microcephaly
- Microstomia / little mouth
- Sleep and vigilance disorders
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Strabismus / squint
- Talipes-varus / metatarsal varus