FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term autosomal dominant intellectual developmental disorder 70 ID (Ontology) DOID:0061043 (Human Disease)
Definition An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21.
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 autosomal dominant intellectual developmental disorder 70       1
 for disease ribbon | autosomal dominant intellectual developmental disorder 70       1
 model of | autosomal dominant intellectual developmental disorder 70       1
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autosomal dominant disease__
intellectual disability_____|
                            autosomal dominant intellectual developmental disorder
                             |__autosomal dominant intellectual developmental disorder 70  1 rec.
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MIM:620157