short-rib thoracic dysplasia 10 with or without polydactyly
An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.
MONDO:0018770
Jeune syndrome
is_a
SRTD10
exact
short-rib thoracic dysplasia 10 with or without polydactyly
exact