atelosteogenesis type 1(redirected from spondylohumerofemoral hypoplasia)
atelosteogenesis type 1A lethal short-limb skeletal dysplasia (OMIM:108720) with vertebral defects, defective skeletal maturation, poorly modelled long bones and joint dislocations.
Defects in FLNB, which encodes filamin B, cause atelosteogenesis type 1.
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