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Autosomal recessive brachyolmia

MONDO:0018662

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.

Also known as: brachyolmia, Hobaek/Toledo type, brachyolmia, autosomal recessive

0 clinical trials for this condition and its sub-types, 0 tagged with Autosomal recessive brachyolmia itself.

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↑ Autosomal recessive disease (994) ↑ Brachyolmia (0)

Sub-types of Autosomal recessive brachyolmia

Brachyolmia type 1, Hobaek type 0 trials
Brachyolmia type 1, toledo type 0 trials

Including sub-types (0) Tagged with Autosomal recessive brachyolmia (0)

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