Baker-Gordon Syndrome (BAGOS)

Baker-Gordon Syndrome(来自ICD-11)
别称:
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Neurodevelopmental Disorder with Involuntary Movement and Abnormal Electroencephalogram
Nedimae
Bagos
Syt1-Related Neurodevelopmental Disorder
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Baker-Gordon Syndrome, is also known as infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome. An important gene associated with Baker-Gordon Syndrome is SYT1 (Synaptotagmin 1). Affiliated tissues include eye, and related phenotypes are eeg abnormality and absent speech
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MALACARDS
AD
Infant
<1/1000000
1
11
3

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