Arthrogryposis - ophthalmoplegia - retinopathy (Q104857): Difference between revisions
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A artrogripose distal tipo 5 é uma síndrome de defeito de desenvolvimento hereditária caracterizada por múltiplas contraturas congênitas dos membros, sem doença neurológica e / ou muscular primária que afeta a função dos membros e anomalias oculares (ptose, oftalmoplegia externa e / ou estrabismo). A inteligência é normal. | |||
| description / en | description / en | ||
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. | |||
Revision as of 10:43, 17 August 2026
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 |
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| 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. |
