FISH mapping Fluorescence in situ hybridisation (FISH) was carried out using metaphase chromosomes as described previously. 8 YACs mapping to 8p22 and 20q13 regions were obtained from the YAC/BAC FISH Mapping Resource Centre (The Max Planck Institute [jmg.bmj.com]

The patient's father did not have any ataxia, but had the same foot deformities as his daughter and a slight peripheral neuropathy. The possible relationship between these clinical features is discussed. [ncbi.nlm.nih.gov]

Associated symptoms, such as muscle wasting, sensory disturbances, foot deformity, scoliosis and electrocardiographic abnormalities were encountered less frequently in EOCA than in FA patients. [doi.org]

Additional features are progressive external ophthalmoplegia, progressive sensorineural hearing loss, peripheral neuropathy, foot deformity, basal ganglia calcification, short stature, deafness, OA and cervical lipomas. [neuroweb.us]

The patient displayed a severe phenotype with early onset cerebellar ataxia complicated by intellectual disability, epilepsy, attention deficit hyperactivity disorder, strabismus, oral apraxia and joint hyperlaxity. [ncbi.nlm.nih.gov]

Other unique phenotypic features in our case were strabismus, severe oral apraxia, and joint hyperlaxity, which are all supposedly part of the phenotype of this de novo KCND3 mutation. [bmcmedgenet.biomedcentral.com]

Arlazoroff A, Rosenberg T, Gadoth N, Ramot Y, Klein C, Gilboa Y (1989) Secondary amenorrhea in two sisters with hypogonadotropic hypogonadism and progressive cerebellar ataxia. Brain Dev 11:422–425 Google Scholar 3. [link.springer.com]

He also present delayed speech and language development. [neurology.org]