Sifrim-Hitz-Weiss Syndrome (SIHIWES)

Alias:
Sihiwes
Sifrim-Hitz-Weiss Multiple Congenital Anomalies-Mental Retardation Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sifrim-Hitz-Weiss Syndrome, also known as sihiwes, is related to chd4 neurodevelopmental disorder and cerebellar atrophy, developmental delay, and seizures. An important gene associated with Sifrim-Hitz-Weiss Syndrome is CHD4 (Chromodomain Helicase DNA Binding Protein 4), and among its related pathways/superpathways is Chromatin Regulation / Acetylation. Affiliated tissues include heart and kidney, and related phenotypes are intellectual disability and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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2
22
5

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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