General Information of Disease (ID: DISOQBIL)

Disease Name Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
Synonyms NEDBAS; NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISOQBIL: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
Disease Identifiers
MONDO ID
MONDO_0032877
UMLS CUI
C5231470
OMIM ID
618709
MedGen ID
1684757

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DLL1 TT9CFQD Strong Autosomal dominant [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DLL1 OTCKXBQR Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 De novo gene disruptions in children on the autistic spectrum. Neuron. 2012 Apr 26;74(2):285-99. doi: 10.1016/j.neuron.2012.04.009.