Human genes for asphyxiating thoracic dystrophy 3
Asphyxiating thoracic dystrophy 3 [DOID:0110087]
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
Synonyms: asphyxiating thoracic dystrophy 3, DOID:0110087, ATD3, polydactyly with neonatal chondrodystrophy, type I, polydactyly with neonatal chondrodystrophy, type III ...