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Lethal arthrogryposis - anterior horn cell disease
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
Lethal congenital contracture syndrome type 1
Familial atrial fibrillation
Annular epidermolytic ichthyosis
Congenital reticular ichthyosiform erythroderma
Epidermolytic ichthyosis
Synonym(s):
- LAAHD
- Vuopala disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GLE1 Q53GS7603371
No signs/symptoms info available.