Details of Disease

General Information of Disease (ID: DISMSPUE)

Disease Name Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
Disease Hierarchy
DISYKSRF: Genetic disease
DISMSPUE: Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
Disease Identifiers
MONDO ID
MONDO_0859263
UMLS CUI
C5575272
OMIM ID
619964
MedGen ID
1811329

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
ARFGEF1 OTPAU0L4 Definitive Autosomal dominant [1]
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References

1 Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABA(A) receptors. Neurobiol Dis. 2020 Feb;134:104632. doi: 10.1016/j.nbd.2019.104632. Epub 2019 Oct 31.