Details of Disease

General Information of Disease (ID: DISH2WII)

Disease Name Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
Synonyms NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES; NEDSOSB; Halperin-Birk syndrome
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISH2WII: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
Disease Identifiers
MONDO ID
MONDO_0032849
UMLS CUI
C5231442
OMIM ID
618651
MedGen ID
1684884

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
SEC31A OT2U42AC Limited 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.