Details of Disease

General Information of Disease (ID: DISDVWDI)

Disease Name Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
Synonyms MCIDDS; MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM
Disease Hierarchy
DISYKSRF: Genetic disease
DISDVWDI: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
Disease Identifiers
MONDO ID
MONDO_0032656
UMLS CUI
C4748984
OMIM ID
618284
MedGen ID
1648355

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
KCNA4 OTTIGYN7 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.