Asphyxiating thoracic dystrophy 4

MONDO:0013441

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

Also known as: ATD4, SRTD4, asphyxiating thoracic dystrophy 4, asphyxiating thoracic dystrophy type 4, short-rib thoracic dysplasia 4 with or without polydactyly

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