Details of Disease

General Information of Disease (ID: DISXZUH6)

Disease Name Lissencephaly 9 with complex brainstem malformation
Synonyms LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9
Disease Hierarchy
DIS7NTLK: Lissencephaly spectrum disorder with complex brainstem malformation
DISXZUH6: Lissencephaly 9 with complex brainstem malformation
Disease Identifiers
MONDO ID
MONDO_0032677
UMLS CUI
C5193029
OMIM ID
618325
MedGen ID
1681109
Orphanet ID
572013

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
MACF1 OTVIHD77 Strong Autosomal dominant [1]
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References

1 MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. doi: 10.1016/j.ajhg.2018.10.019. Epub 2018 Nov 21.