Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

MONDO:0007158

Distal arthrogryposis type 5 is 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.

Also known as: arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, distal arthrogryposis type 5, distal arthrogryposis type IIB, distal arthrogryposis with ophthalmoplegia, oculomelic amyoplasia, Arthogryposis with oculomotor limitation and electroretinal abnormalities, DA5, arthrogryposis ophthalmoplegia retinopathy

1 clinical trial for this condition and its sub-types.

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