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2q33.1 microdeletion syndrome
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
2q32q33 microdeletion syndrome
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Split hand-split foot malformation
Synonym(s):
- Del(2)(q33.1)
- Monosomy 2q33.1

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
SATB2 Q9UPW6608148
No signs/symptoms info available.