Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome

MONDO:0017199

Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterized by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.

Also known as: Heide syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome itself.

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↑ Syndromic disease (7133)

Including sub-types (0) Tagged with Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome (0)

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