Details of Disease

General Information of Disease (ID: DIS7D5RO)

Disease Name Neurodevelopmental disorder with microcephaly, ataxia, and seizures
Synonyms NEDMAS; neurodevelopmental disorder with microcephaly, ataxia, and seizures
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DIS7D5RO: Neurodevelopmental disorder with microcephaly, ataxia, and seizures
Disease Identifiers
MONDO ID
MONDO_0060577
UMLS CUI
C4540188
OMIM ID
617709
MedGen ID
1613354

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
SARS1 OTFKXQ1O Moderate Autosomal recessive [1]
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References

1 A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever. Hum Mutat. 2021 Dec;42(12):1576-1583. doi: 10.1002/humu.24285. Epub 2021 Oct 4.