Details of Disease

General Information of Disease (ID: DIS3IT59)

Disease Name Neurodevelopmental disorder with hypotonia, seizures, and absent language
Synonyms NDHSAL; neurodevelopmental disorder with hypotonia, seizures, and absent language; neurodevelopmental disorder with hypotonia, seizures, and absent language; NDHSAL
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DIS3IT59: Neurodevelopmental disorder with hypotonia, seizures, and absent language
Disease Identifiers
MONDO ID
MONDO_0014995
UMLS CUI
C4310643
OMIM ID
617268
MedGen ID
934610

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
HECW2 OTP2IN12 Definitive Autosomal dominant [1]
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References

1 Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. J Med Genet. 2022 Jul;59(7):669-677. doi: 10.1136/jmedgenet-2021-107871. Epub 2021 Jul 28.