Details of Disease

General Information of Disease (ID: DISAFLGR)

Disease Name Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
Synonyms neurodevelopmental disorder with hypotonia, microcephaly, and seizures; NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISAFLGR: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
Disease Identifiers
MONDO ID
MONDO_0030025
UMLS CUI
C5394312
OMIM ID
618862
MedGen ID
1710110

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
ADARB1 OTGKSZEV Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy. J Med Genet. 2021 Jul;58(7):495-504. doi: 10.1136/jmedgenet-2020-107048. Epub 2020 Jul 27.