Disease

agenesis of corpus callosum, cardiac, ocular, and genital syndrome

Definition

A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12.

Synonyms

None

Cross References

MIM:618929

Parent Terms

syndrome

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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