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GTR Home > Conditions/Phenotypes > Oculogastrointestinal-neurodevelopmental syndrome

Oculogastrointestinal-neurodevelopmental syndrome

Summary

Oculogastrointestinal neurodevelopmental syndrome (OGIN) is characterized by microphthalmia and/or coloboma in association with other congenital anomalies, including imperforate anus, horseshoe kidney, and structural cardiac defects. Hearing loss and severe developmental delay are also observed in most patients (Zha et al., 2020; Mor-Shaked et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: OGIN, SOLH, CAPN15
    Summary: calpain 15

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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