DISEASES

Disease-gene associations mined from literature

Human genes for asphyxiating thoracic dystrophy 4

Asphyxiating thoracic dystrophy 4 [DOID:0110088]

An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.

Synonyms:  asphyxiating thoracic dystrophy 4,  DOID:0110088,  ATD4,  SRTD4,  short-rib thoracic dysplasia 4 with or without polydactyly ...