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Lethal polymalformative syndrome, Boissel type
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
Charcot-Marie-Tooth disease type 4D
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Fanconi anemia
Galactosialidosis
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Prolidase deficiency
Spinocerebellar ataxia type 26
Synonym(s):
(no synonyms)
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: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FTO Q9C0B1610966
No signs/symptoms info available.