Version: 8.0.0
Date: Tue Jan 28 2025
distal arthrogryposis type 5D
DOID:0111594
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

distal arthrogryposis type 5D

Definition
A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1.
Synonyms
  • DA5D
  • distal arthrogryposis type 5 without ophthalmoparesis
Cross References
Parent Terms
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None
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