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Intellectual deficit - obesity - brain malformations - facial dysmorphism
1 associated gene
2 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive nonsyndromic intellectual deficit
Spondyloepiphyseal dysplasia tarda
Synonym(s):
- Autosomal recessive intellectual deficit due to TRAPPC9 deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
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:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
TRAPPC9 Q96Q05611966
No signs/symptoms info available.