Details of Disease | DrugMAP

General Information of Disease (ID: DISR6X5B)

Disease Name	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
Synonyms	neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities; NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA; neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISR6X5B: Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
Disease Identifiers	MONDO ID MONDO_0030063 UMLS CUI C5394517 OMIM ID 618922 MedGen ID 1708579

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
GRM7	TT0I76D	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRM7	OTLJIRN2	Strong	Autosomal recessive	[1]
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References

1	Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 Jul 19;9(1):42. doi: 10.1186/s12920-016-0208-3.