Details of Disease

General Information of Disease (ID: DISP341L)

Disease Name Psychomotor retardation, epilepsy, and craniofacial dysmorphism
Synonyms PMRED; neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures; psychomotor retardation, epilepsy, and craniofacial dysmorphism
Disease Hierarchy
DISYKSRF: Genetic disease
DISP341L: Psychomotor retardation, epilepsy, and craniofacial dysmorphism
Disease Identifiers
MONDO ID
MONDO_0013787
UMLS CUI
C3281055
OMIM ID
614501
MedGen ID
482685

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
SNIP1 OTL3RA91 Limited Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7(1):e28936. doi: 10.1371/journal.pone.0028936. Epub 2012 Jan 17.