FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Sifrim-Hitz-Weiss syndrome ID (Ontology) DOID:0070529 (Human Disease)
Definition An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31.
Also Known As "CHD4 Neurodevelopmental Disorder" ; "CHD4-related neurodevelopmental disorder" ; "CHD4-related neurodevelopmental syndrome" (for all, see Synonyms field below)
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 Genes
 Sifrim-Hitz-Weiss syndrome       2
 for disease ribbon | Sifrim-Hitz-Weiss syndrome       2
 model of | Sifrim-Hitz-Weiss syndrome       2
Spanning Tree (Parents/Children)
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autosomal dominant disease__
intellectual disability_____|
                            autosomal dominant intellectual developmental disorder
                             |__Sifrim-Hitz-Weiss syndrome  2 rec.
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Is a autosomal dominant intellectual developmental disorder
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Synonyms
  • "CHD4 Neurodevelopmental Disorder" EXACT
    "CHD4-related neurodevelopmental disorder" EXACT
    "CHD4-related neurodevelopmental syndrome" EXACT
    "SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME" EXACT
    "SIHIWES" EXACT OMO:0003012
Secondary IDs
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MIM:617159
ORDO:653712