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Short-rib thoracic dysplasia 9 with or without polydactyly
asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13
Pronunciation
/ʃɔrt - rɪb θəˈræsɪk dɪsˈpleɪʒiə 9 wɪθ ɔr wəˈθaʊt ˌpɑlɪˈdæktəli/
/ʃɔːt - rɪb θɔːˈrasɪk dɪsˈpleɪzɪə 9 wɪð ɔː wɪðˈaʊt ˌpɒlɪˈdaktɪli/
Categories
autosomal recessive disease
asphyxiating thoracic dysplasia
rare disease