FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Tonne-Kalscheuer syndrome ID (Ontology) DOID:0112042 (Human Disease)
Definition A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2.
Also Known As "intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia" ; "MRX61" ; "TOKAS" (for all, see Synonyms field below)
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 Genes
 Tonne-Kalscheuer syndrome       1
 for disease ribbon | Tonne-Kalscheuer syndrome       1
 model of | Tonne-Kalscheuer syndrome       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease_________
syndromic intellectual disability__|
                                   syndromic X-linked intellectual disability
                                    |__Tonne-Kalscheuer syndrome  1 rec.
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Is a syndromic X-linked intellectual disability
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Synonyms
  • "intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia" EXACT
    "MRX61" EXACT OMO:0003012
    "TOKAS" EXACT OMO:0003012
    "X-linked mental retardation 61" EXACT
Secondary IDs
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MIM:300978