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Distal Xq28 microduplication syndrome
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
X-linked non-syndromic intellectual deficit
Cataract - intellectual deficit - hypogonadism
Micro syndrome
Synonym(s):
- Distal dup(X)q(28)
- Distal trisomy Xq28
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
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: no data available
Type of inheritance: x-linked recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
RAB39B Q96DA2300774
No signs/symptoms info available.