Details of Disease

General Information of Disease (ID: DISZCJH6)

Disease Name Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DISZCJH6: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
Disease Identifiers
MONDO ID
MONDO_0859283
UMLS CUI
C5774209
OMIM ID
620024
MedGen ID
1823982

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
PPFIBP1 OTRA2S7B Strong Autosomal recessive [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.