Details of Disease

General Information of Disease (ID: DISBO4QF)

Disease Name Neurodevelopmental disorder with poor language and loss of hand skills
Synonyms NDPLHS; neurodevelopmental disorder with poor language and loss of hand skills
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISBO4QF: Neurodevelopmental disorder with poor language and loss of hand skills
Disease Identifiers
MONDO ID
MONDO_0060659
UMLS CUI
C4693546
OMIM ID
617903
MedGen ID
1637031

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
GABBR2 OT67RIFY Strong Autosomal dominant [1]
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References

1 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet. 2014 Oct 2;95(4):360-70. doi: 10.1016/j.ajhg.2014.08.013. Epub 2014 Sep 25.