Details of Disease

General Information of Disease (ID: DIS7SGLK)

Disease Name Seizures, early-onset, with neurodegeneration and brain calcifications
Synonyms
seizures, early-onset, with neurodegeneration and brain calcification; SENEBAC; SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; seizures, early-onset, with neurodegeneration and brain calcifications
Disease Hierarchy
DISYKSRF: Genetic disease
DIS7SGLK: Seizures, early-onset, with neurodegeneration and brain calcifications
Disease Identifiers
MONDO ID
MONDO_0030033
UMLS CUI
C5394359
OMIM ID
618875
MedGen ID
1713658

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
NRROS OT9WNOKY Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.