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14q11.2 microduplication syndrome
1 associated gene
19 connected diseases
No signs/symptoms info
Disease Type of connection
14q12 microdeletion syndrome
Atypical Rett syndrome
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Autosomal dominant hypohidrotic ectodermal dysplasia
Hyperlipidemia type 3
Lipoprotein glomerulopathy
Sea-blue histiocytosis
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Alveolar rhabdomyosarcoma
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Synonym(s):
- Dup(14)(q11.2)
- Trisomy 14q11.2

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

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

Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
FOXG1 P55316164874
No signs/symptoms info available.