autosomal recessive brachyolmia
Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015262
brachyolmia
is_a
brachyolmia, Hobaek/Toledo type
exact
brachyolmia, autosomal recessive
exact