Ataxia - deafness - intellectual disability syndrome (Q66458): Difference between revisions
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Esta síndrome é caracterizada por ataxia progressiva com início durante a infância, surdez e déficit intelectual. Foi descrita em duas famílias. A transmissão pode ser recessiva ligada ao X. O quadro clínico é semelhante ao observado na síndrome de Richards-Rundle (ver este termo). | |||||||||||||||
| description / en | description / en | ||||||||||||||
This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit. It has been described in two families. Transmission may be X-linked recessive. The clinical picture is similar to that seen in Richards-Rundle syndrome (see this term). | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/2133046984 / rank | |||||||||||||||
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CID11:ID_2133046984 | |||||||||||||||
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dki-india-ID_2133046984 | |||||||||||||||
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Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest revision as of 14:16, 14 August 2026
This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit. It has been described in two families. Transmission may be X-linked recessive. The clinical picture is similar to that seen in Richards-Rundle syndrome (see this term).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2133046984 |
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| English | Ataxia - deafness - intellectual disability syndrome |
This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit. It has been described in two families. Transmission may be X-linked recessive. The clinical picture is similar to that seen in Richards-Rundle syndrome (see this term). |
Statements
CID11:ID_2133046984
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dki-india-ID_2133046984
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Concluído
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13 August 2026
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