Disease

autosomal recessive intellectual developmental disorder 43

Definition

An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays.

Synonyms

None

Cross References

MIM:615817

Parent Terms

autosomal recessive 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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