Details of Disease

General Information of Disease (ID: DISFZKZ1)

Disease Name Neurodevelopmental disorder with microcephaly and structural brain anomalies
Synonyms NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES; NEDMIBA
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISFZKZ1: Neurodevelopmental disorder with microcephaly and structural brain anomalies
Disease Identifiers
MONDO ID
MONDO_0032779
UMLS CUI
C5193123
OMIM ID
618492
MedGen ID
1677276

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
DYNC1I2 OTS0UOL5 Strong Autosomal recessive [1]
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References

1 Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. Am J Hum Genet. 2019 Jun 6;104(6):1073-1087. doi: 10.1016/j.ajhg.2019.04.002. Epub 2019 May 9.