FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term autosomal recessive intellectual developmental disorder 77 ID (Ontology) DOID:0081236 (Human Disease)
Definition An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36.
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 autosomal recessive intellectual developmental disorder 77       1
 for disease ribbon | autosomal recessive intellectual developmental disorder 77       1
 model of | autosomal recessive intellectual developmental disorder 77       1
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autosomal recessive disease__
intellectual disability______|
                             autosomal recessive intellectual developmental disorder
                              |__autosomal recessive intellectual developmental disorder 77  1 rec.
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Is a autosomal recessive intellectual developmental disorder
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MIM:619988