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2q32q33 microdeletion syndrome
1 OMIM reference -
1 associated gene
40 signs/symptoms
COMMON GENES: 1
2q33.1 microdeletion syndrome
1 associated gene
No signs/symptoms info
2q32q33 microdeletion syndrome
2q33.1 microdeletion syndrome

SATB2
(UniProt - OMIM)
 SATB2
(UniProt - OMIM)

COMMON
GENES 		SATB2


Citations in the biomedical literature:


2q32q33 microdeletion syndrome
SATB2
2q33.1 microdeletion syndrome



2q32q33 microdeletion syndrome
2q33.1 microdeletion syndrome

Synonym(s):
- 2q32-q33 microdeletion syndrome
- Del(2)(q32)
- Del(2)(q32q33)
- Monosomy 2q32
- Monosomy 2q32-q33
- Monosomy 2q32q33
Synonym(s):
- Del(2)(q33.1)
- Monosomy 2q33.1
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- 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: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
2q32q33 microdeletion syndrome

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

Frequent
- 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

Occasional
- 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


2q33.1 microdeletion syndrome

(no data available)