Ataxia - deafness - intellectual disability syndrome (Q66458): Difference between revisions

From determinar.ia.br - Determine suas informações
‎Changed an Item
‎Changed an Item
Property / Knowledge Architect
 
Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank
 
Normal rank

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
    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
      0 references
      dki-india-ID_2133046984
      0 references
      Concluído
      0 references