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Waisman Syndrome

Disease ID: disease_node_20238

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DbxrefMIM:311510
SubclassofDOID_0080012, DOID_225
Data SourceDOID
SynonymsLaxova-Opitz syndrome, early-onset parkinsonism-intellectual disability syndrome
Doid LabelWaisman syndrome
Doid DescriptionA syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28.
Has Material Basis InGENO_0000149
Disease Node Iddisease_node_20238
Doid IdDOID_0111781
LabelWaisman Syndrome