Details of Disease

General Information of Disease (ID: DISCNH6R)

Disease Name Sandestig-stefanova syndrome
Synonyms SANDESTIG-STEFANOVA SYNDROME; SANDSTEF
Disease Hierarchy
DISYKSRF: Genetic disease
DISCNH6R: Sandestig-stefanova syndrome
Disease Identifiers
MONDO ID
MONDO_0032926
UMLS CUI
C5394118
OMIM ID
618804
MedGen ID
1718072

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
NUP188 OT74M8KZ Strong Autosomal recessive [1]
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References

1 NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?. Mol Syndromol. 2020 Jan;10(6):313-319. doi: 10.1159/000504818. Epub 2019 Dec 10.