FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term infantile hypotonia with psychomotor retardation and characteristic facies-3 ID (Ontology) DOID:0060935 (Human Disease)
Definition An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24.
Also Known As "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3" ; "IHPRF3" ; "TBCK-related intellectual disability syndrome"
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 infantile hypotonia with psychomotor retardation and characteristic facies-3       1
 for disease ribbon | infantile hypotonia with psychomotor retardation and characteristic facies-3       1
 model of | infantile hypotonia with psychomotor retardation and characteristic facies-3       1
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autosomal recessive disease__
intellectual disability______|
                             autosomal recessive intellectual developmental disorder
                              |__infantile hypotonia with psychomotor retardation and characteristic facies-3  1 rec.
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Is a autosomal recessive intellectual developmental disorder
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Synonyms
  • "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3" EXACT
    "IHPRF3" EXACT OMO:0003012
    "TBCK-related intellectual disability syndrome" EXACT
Secondary IDs
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MIM:616900
ORDO:488632
UMLS_CUI:C5567480