General Information of Disease (ID: DIS25TU4)

Disease Name Intellectual developmental disorder with autistic features and language delay, with or without seizures
Synonyms
IDDALDS; INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; intellectual developmental disorder with autistic features and language delay, with or without seizures
Disease Hierarchy
DISYKSRF: Genetic disease
DIS25TU4: Intellectual developmental disorder with autistic features and language delay, with or without seizures
Disease Identifiers
MONDO ID
MONDO_0030051
UMLS CUI
C5394447
OMIM ID
618906
MedGen ID
1715081

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
TANC2 OTDXY7PX Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.