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Developmental Delay And Seizures With Or Without Movement Abnormalities

Disease ID: disease_node_16365

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DbxrefMIM:617836
SubclassofDOID_0050888
Data SourceDOID
Doid Labeldevelopmental delay and seizures with or without movement abnormalities
Doid DescriptionA syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36.
Has PhenotypeHP_0012758
Disease Node Iddisease_node_16365
Doid IdDOID_0080473
LabelDevelopmental Delay And Seizures With Or Without Movement Abnormalities