FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term autosomal dominant intellectual developmental disorder 43 ID (Ontology) DOID:0070073 (Human Disease)
Definition An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2.
Also Known As "autosomal dominant mental retardation 43" ; "autosomal dominant non-syndromic intellectual disability 43" ; "MRD43"
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 autosomal dominant intellectual developmental disorder 43       1
 for disease ribbon | autosomal dominant intellectual developmental disorder 43       1
 model of | autosomal dominant intellectual developmental disorder 43       1
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autosomal dominant disease__
intellectual disability_____|
                            autosomal dominant intellectual developmental disorder
                             |__autosomal dominant intellectual developmental disorder 43  1 rec.
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Is a autosomal dominant intellectual developmental disorder
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Synonyms
  • "autosomal dominant mental retardation 43" EXACT
    "autosomal dominant non-syndromic intellectual disability 43" EXACT
    "MRD43" EXACT OMO:0003012
Secondary IDs
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MIM:616977