Human genes for hypoplastic or aplastic tibia with polydactyly
Hypoplastic or aplastic tibia with polydactyly [DOID:0111564]
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 LMBR1 on chromosome 7q36.3.
Synonyms: hypoplastic or aplastic tibia with polydactyly, DOID:0111564, hypoplastic or aplastic tibia with polydactylies, absence of tibia with polydactyly, absent tibia-polydactyly syndrome ...