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    <!-- http://www.ebi.ac.uk/efo/EFO_0010249 -->

    <Class rdf:about="http://www.ebi.ac.uk/efo/EFO_0010249">
        <rdfs:label>spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_183518"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_98539"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_98693"/>
        <dc:creator>paola</dc:creator>
        <oboInOwl:hasDbXref>OMIM:618387</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN3 is an autosomal recessive disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy
 and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging.</ns3:IAO_0000115>
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        <rdfs:label>Rare hereditary ataxia</rdfs:label>
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        <rdfs:label>Early-onset ataxia with dementia</rdfs:label>
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    <!-- http://www.orpha.net/ORDO/Orphanet_98693 -->

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        <rdfs:label>Spinocerebellar ataxia with oculomotor anomaly</rdfs:label>
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