Details of Disease

General Information of Disease (ID: DISDHD0H)

Disease Name Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
Synonyms NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISDHD0H: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
Disease Identifiers
MONDO ID
MONDO_0032818
UMLS CUI
C5231415
OMIM ID
618572
MedGen ID
1684815

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
INTS8 OT3SRRLM Limited Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet. 2017 May 25;13(5):e1006809. doi: 10.1371/journal.pgen.1006809. eCollection 2017 May.