Details of Disease | DrugMAP

General Information of Disease (ID: DISCXG56)

Disease Name	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Synonyms	Baker-Gordon syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISD715V: Hereditary neurological disease DISOJJ2D: Movement disorder DISCXG56: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Disease Identifiers	MONDO ID MONDO_0033864 UMLS CUI C4748715 OMIM ID 618218 MedGen ID 1648431 Orphanet ID 522077 SNOMED CT ID 1217371005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SYT1	OTVTPOI6	Strong	Autosomal dominant	[1]
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References

1	Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. J Clin Invest. 2015 Apr;125(4):1670-8. doi: 10.1172/JCI79765. Epub 2015 Feb 23.