Details of Disease

General Information of Disease (ID: DISDL3G7)

Disease Name Tessadori-Van Haaften neurodevelopmental syndrome 4
Synonyms TEVANED4; Tessadori-Van Haaften neurodevelopmental syndrome 4
Disease Hierarchy
DISH3YM1: Tessadori-Van-Haaften neurodevelopmental syndrome
DISDL3G7: Tessadori-Van Haaften neurodevelopmental syndrome 4
Disease Identifiers
MONDO ID
MONDO_0031000
UMLS CUI
C5677016
OMIM ID
619951
MedGen ID
1804234

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
H4C9 OTB71W46 Limited Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.