Details of Disease | DrugMAP

General Information of Disease (ID: DIS36FUT)

Disease Name	Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DIS36FUT: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
Disease Identifiers	MONDO ID MONDO_0957267 UMLS CUI C5830509 OMIM ID 620371 MedGen ID 1841145

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
ESAM	OTF518AI	Strong	Autosomal recessive	[1]
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References

1	Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. Am J Hum Genet. 2023 Apr 6;110(4):681-690. doi: 10.1016/j.ajhg.2023.03.005. Epub 2023 Mar 29.