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Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
1 OMIM reference -
2 associated genes
1 connected disease
No signs/symptoms info
Disease Type of connection
Congenital non-bullous ichthyosiform erythroderma
Synonym(s):
- 15q26.3 microdeletion syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin 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: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ADAMTS17 Q8TE56607511
CERS3 Q8IU89615276
No signs/symptoms info available.