Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Synonyms: SYT1-related neurodevelopmental disorder
A rare genetic neurological disorder characterized by infantile hypotonia congenital ophthalmic anomalies (including strabismus esotropia nystagmus and central visual impairment) global developmental delay and intellectual disability behavioral abnormalities and movement disorder (such as dystonia chorea hyperkinesia stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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