Phenotype variant of the common duplication at 17p11.2.
Finsterer
Josef
J
D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000209:etiology; D001827:Body Height; D002886:Chromosomes, Human, Pair 17; D005260:Female; D005530:Foot Deformities / Q000209:etiology; D020131:Genes, Duplicate; D006319:Hearing Loss, Sensorineural / Q000209:etiology; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D007037:Hypothyroidism / Q000209:etiology; D008297:Male; D010211:Papilledema / Q000209:etiology; D010375:Pedigree; D010641:Phenotype; D014202:Tremor / Q000209:etiology