Disease

developmental delay and seizures with or without movement abnormalities

Definition

A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36.

Synonyms

None

Cross References

MIM:617836

Parent Terms

syndromic intellectual disability

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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