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Ataxia-deafness-intellectual disability syndrome
A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993.
ORPHA:1188Classification level: Disorder
A summary on this disease is available in Deutsch (2007) Italiano (2007) Español (2021) Français (2021) Nederlands (2021)
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