FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Kleefstra syndrome ID (Ontology) DOID:0080597 (Human Disease)
Definition A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone.
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Human Disease Models (FBhh)  DOID       1
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 Human Disease Models
 Kleefstra syndrome       1
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  disease
   |__syndrome
       |__Kleefstra syndrome  9 rec.
           |__Kleefstra syndrome 1 4 rec.
           |__Kleefstra syndrome 2 4 rec.
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MIM:PS610253