Catalog

Ataxia - deafness - intellectual disability syndrome

No MMS code

Link to WHO Definition

Ataxia - deafness - intellectual disability syndrome – http://id.who.int/icd/entity/2133046984

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).