Human genes for short-rib thoracic dysplasia 6 with or without polydactyly
Short-rib thoracic dysplasia 6 with or without polydactyly [DOID:0110092]
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33.
Synonyms: short-rib thoracic dysplasia 6 with or without polydactyly, DOID:0110092, shortrib thoracic dysplasia 6 with or without polydactyly, Majewski syndrome, polydactyly with neonatal chondrodystrophy, type II ...