X-linked intellectual disability-ataxia-apraxia syndrome
X-linked intellectual disability-ataxia-apraxia syndrome
Definition
X-linked intellectual disability-ataxia-apraxia syndrome is characterized by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.