Details of Disease

General Information of Disease (ID: DISACBMY)

Disease Name Diencephalic-mesencephalic junction dysplasia syndrome 1
Synonyms MISSBC; recessive microcephaly with spastic quadriplegia; microcephaly, seizures, spasticity, and brain calcifications; microcephaly with spastic quadriplegia; DMJDS1
Disease Hierarchy
DIS91LZ2: Diencephalic-mesencephalic junction dysplasia
DISACBMY: Diencephalic-mesencephalic junction dysplasia syndrome 1
Disease Identifiers
MONDO ID
MONDO_0009625
UMLS CUI
C4538630
OMIM ID
251280
MedGen ID
1615973

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
PCDH12 OT2VANLI Definitive Autosomal recessive [1]
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References

1 Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. Ann Neurol. 2018 Nov;84(5):638-647. doi: 10.1002/ana.25327. Epub 2018 Oct 4.