FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term developmental delay and seizures with or without movement abnormalities ID (Ontology) DOID:0080473 (Human Disease)
Definition A 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.
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 developmental delay and seizures with or without movement abnormalities       1
 for disease ribbon | developmental delay and seizures with or without movement abnormalities       1
 model of | developmental delay and seizures with or without movement abnormalities       1
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  intellectual disability
   |__syndromic intellectual disability
       |__developmental delay and seizures with or without movement abnormalities  1 rec.
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MIM:617836