short-rib thoracic dysplasia 6 with or without polydactyly (DOID:0110092)
Alliance: disease page
Synonyms: Majewski syndrome; polydactyly with neonatal chondrodystrophy, type II; short rib-polydactyly syndrome type IIA; SRPS2A; SRTD6
Alt IDs: OMIM:263520, ICD10CM:Q77.2
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33.