Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

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Synonyms: Distal arthrogryposis type 5 | Distal arthrogryposis type IIB | Distal arthrogryposis with ophthalmoplegia | Oculomelic amyoplasia

An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs without primary neurologic and/or muscle disease that affects limb function and ocular anomalies (ptosis external ophtalmoplegia and/or strabismus). Intelligence is normal.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome?

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