Details of Disease

General Information of Disease (ID: DIS153ZV)

Disease Name Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Synonyms NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; Vandervore-Schot Syndrome; NEDMCMS
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DIS153ZV: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Disease Identifiers
MONDO ID
MONDO_0032887
UMLS CUI
C5231480
OMIM ID
618730
MedGen ID
1684695

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
TMX2 OTM9O21K Strong Autosomal recessive [1]
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References

1 Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. J Med Genet. 2020 Apr;57(4):274-282. doi: 10.1136/jmedgenet-2019-106409. Epub 2019 Oct 5.