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GTR Home > Conditions/Phenotypes > Cone-rod synaptic disorder syndrome, congenital nonprogressive

Cone-rod synaptic disorder syndrome, congenital nonprogressive

Summary

Congenital nonprogressive cone-rod synaptic disorder syndrome (CRSDS) is characterized by retinal and neurodevelopmental disease as well as occasional anomalies of glucose homeostasis. Patients exhibit low vision, photophobia, and nystagmus, and show an electronegative waveform in response to bright flash under dark adaptation on electroretinography, with severely reduced and delayed light-adapted responses. Neurodevelopmental features include poor to no language and autistic behaviors (Mechaussier et al., 2020). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CRSDS, OBOE, RAB3IP3, RIM2, RIMS2
    Summary: regulating synaptic membrane exocytosis 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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