FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Kleefstra syndrome 2 ID (Ontology) DOID:0080598 (Human Disease)
Definition A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36.
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 Kleefstra syndrome 2       1      2      1
 for disease ribbon | Kleefstra syndrome 2       --       2       --
 model of | Kleefstra syndrome 2       1      2       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
syndrome                        |
 |__Kleefstra syndrome__________|
                                Kleefstra syndrome 2  4 rec.
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Is a autosomal dominant disease
Kleefstra syndrome
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MIM:617768
ORDO:261652