Version: 8.0.0
Date: Tue Jan 28 2025
hypoplastic or aplastic tibia with polydactyly
DOID:0111564
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

hypoplastic or aplastic tibia with polydactyly

Definition
A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3.
Synonyms
  • absence of tibia with polydactyly
  • absent tibia-polydactyly syndrome
Cross References
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