FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal dominant intellectual developmental disorder 38 ID (Ontology) DOID:0070068 (Human Disease)
Definition An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33.
Also Known As "autosomal dominant mental retardation 38" ; "autosomal dominant non-syndromic intellectual disability 38" ; "MRD38" (for all, see Synonyms field below)
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 Genes
 autosomal dominant intellectual developmental disorder 38       2
 for disease ribbon | autosomal dominant intellectual developmental disorder 38       2
 model of | autosomal dominant intellectual developmental disorder 38       2
Spanning Tree (Parents/Children)
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autosomal dominant disease__
intellectual disability_____|
                            autosomal dominant intellectual developmental disorder
                             |__autosomal dominant intellectual developmental disorder 38  2 rec.
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Is a autosomal dominant intellectual developmental disorder
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Synonyms
  • "autosomal dominant mental retardation 38" EXACT
    "autosomal dominant non-syndromic intellectual disability 38" EXACT
    "MRD38" EXACT OMO:0003012
    "PRELDS" EXACT OMO:0003012
    "psychomotor retardation, epilepsy, and language disability syndrome" EXACT
Secondary IDs
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MIM:616393