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Autosomal recessive Kenny-Caffey syndrome
1 OMIM reference -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Sanjad-Sakati syndrome
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TBCE Q15813604934
No signs/symptoms info available.