Article
New X-linked syndrome with apraxia, ataxia, and mental deficiency: clinical, cytogenetic and neuropsychological studies in two Danish families.
American journal of medical genetics - 1 Jan 2000
Tranebjaerg L, Lou H, Andresen J
Abstract excerpt
In 2 unrelated families 9 males presented with ataxia, apraxia, and neuropsychological abnormalities or mental deficiency, inherited as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. The symptoms were present in early childhood and were non-progressive. Additional findings in 2 males were congenital "club-feet" and generalized seizures. The affected males were 13-62...
Topics
- Adolescent
- Adult
- Apraxias
- Ataxia
- Child
- Female
- Genetic Linkage
- Humans
- Intellectual Disability
- Male
- Neuropsychology
- Pedigree