Details of Disease

General Information of Disease (ID: DIS51SK0)

Disease Name Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DIS51SK0: Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
Disease Identifiers
MONDO ID
MONDO_0957541
UMLS CUI
C5830654
OMIM ID
620455
MedGen ID
1841290

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
EIF4A2 OT08H03R Strong Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.