Arthrogryposis - ophthalmoplegia - retinopathy (Q104857)
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Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterised by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_162950585 |
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| English | Arthrogryposis - ophthalmoplegia - retinopathy |
Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterised by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. |
Statements
CID11:ID_162950585
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dki-india-ID_162950585
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Concluído
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16 August 2026
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