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5p13 microduplication syndrome
1 OMIM reference -
1 associated gene
4 connected diseases
No signs/symptoms info
Disease Type of connection
Cornelia de Lange syndrome
Autosomal recessive primary microcephaly
Autosomal recessive nonsyndromic intellectual deficit
CLN1 disease
Synonym(s):
- Dup(5)(p13)
- Trisomy 5p13
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic 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: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
NIPBL Q6KC79608667
No signs/symptoms info available.