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). | |||
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). |
