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Human Disease

Sifrim-Hitz-Weiss syndrome

Term ID
DOID:0070529
Synonyms
  • CHD4 Neurodevelopmental Disorder
  • CHD4-related neurodevelopmental disorder
  • CHD4-related neurodevelopmental syndrome
  • SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME
  • SIHIWES
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. (3)
References
Ontology
Human Disease   ( DOID:0070529 )
Relationships
is a type of
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Genes Involved
Zebrafish Models