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Developmental delay, language impairment, and ocular abnormalities

Summary

Developmental delay, language impairment, and ocular abnormalities (DEVLO) is characterized by delayed acquisition of skills particularly affecting speech and language development, although many patients show mild motor delay. Most affected individuals also have a small head circumference (down to -3 SD) and may have mild dysmorphic features. Variable ocular anomalies include strabismus, cataracts, and cortical visual impairment. Older patients require special schooling and often demonstrate behavioral abnormalities (Laboy Cintron et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ARC20, DEVLO, P20-ARC, ARPC4
    Summary: actin related protein 2/3 complex subunit 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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