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.

Synonyms

CHD4 Neurodevelopmental Disorder
CHD4-related neurodevelopmental disorder

Cross References

Parent Terms

autosomal dominant intellectual developmental disorder

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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Sifrim-Hitz-Weiss syndrome

Sifrim-Hitz-Weiss syndrome

Associated Genes

Associated Alleles

Associated Models