Disease

intellectual developmental disorder with short stature and behavioral abnormalities

Definition

A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1.

Synonyms

IDDSSBA

Cross References

MIM:618687

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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