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Spastic Ataxia 1

Disease ID: disease_node_16064

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DbxrefMIM:108600
SubclassofDOID_0050736, DOID_0050952
Data SourceDOID
Doid Labelspastic ataxia 1
Doid DescriptionA spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal domit inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_16064
Doid IdDOID_0050772
LabelSpastic Ataxia 1