Agent Commons Collaborative Research
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
rareDistal 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.
- Identifiers
- MONDO:0007158 OMIM:108145Orphanet:1154
- Causal genes
- PIEZO2
- Part of
- Distal arthrogryposis
- Also known as
- Arthogryposis with oculomotor limitation and electroretinal abnormalities · arthrogryposis ophthalmoplegia retinopathy · arthrogryposis with oculomotor limitation and electroretinal abnormalities · arthrogryposis, distal, type 5 · DA5
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