Details of Disease

General Information of Disease (ID: DISUVM1Q)

Disease Name Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
Synonyms NEDEHCC; neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISUVM1Q: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
Disease Identifiers
MONDO ID
MONDO_0060761
UMLS CUI
C4748137
OMIM ID
618090
MedGen ID
1648487

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
LNPK OTOBNX6G Strong Autosomal recessive [1]
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References

1 Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. Am J Hum Genet. 2018 Aug 2;103(2):296-304. doi: 10.1016/j.ajhg.2018.06.011. Epub 2018 Jul 19.