Orphanet: Ataxia deafness intellectual disability syndrome

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Ataxia-deafness-intellectual disability syndrome

Disease definition

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:1188

Classification level: Disorder

Synonym(s):
- Ataxia-hearing loss-intellectual disability syndrome
- Reardon-Baraitser syndrome
Prevalence: <1 / 1 000 000
Inheritance: Unknown
Age of onset: Childhood, Infancy
ICD-10: G11.1
OMIM: 208850
UMLS: -
MeSH: -
GARD: 4644
MedDRA: -

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Ataxia-deafness-intellectual disability syndrome

ORPHA:1188

A summary on this disease is available in Deutsch (2007) Italiano (2007) Español (2021) Français (2021) Nederlands (2021)

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