Details of Disease

General Information of Disease (ID: DISFQ66H)

Disease Name Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Synonyms NDCAGF; NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISFQ66H: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Disease Identifiers
MONDO ID
MONDO_0032817
UMLS CUI
C5231414
OMIM ID
618571
MedGen ID
1684661

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
INTS1 OT7TY1M1 Strong Autosomal recessive [1]
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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.