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GTR Home > Conditions/Phenotypes > Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Synonyms
BAKER-GORDON SYNDROME; NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENT AND ABNORMAL ELECTROENCEPHALOGRAM

Summary

Baker-Gordon syndrome (BAGOS) is a neurodevelopmental disorder characterized by infantile hypotonia, ophthalmic abnormalities, moderate to profound global developmental delay, poor or absent speech, behavioral abnormalities, hyperkinetic movements, and EEG abnormalities in the absence of overt seizures (summary by Baker et al., 2018). [from OMIM]

Available tests

1 test is in the database for this condition.

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Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BAGOS, P65, SVP65, SYT, SYT1
    Summary: synaptotagmin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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