Details of Disease

General Information of Disease (ID: DIS3U21R)

Disease Name Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Synonyms NEDDFL; neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DIS3U21R: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Disease Identifiers
MONDO ID
MONDO_0060596
UMLS CUI
C4540327
OMIM ID
617755
MedGen ID
1627464
Orphanet ID
528084

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
BPTF OTD1RZAD Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. Genet Med. 2017 Feb;19(2):224-235. doi: 10.1038/gim.2016.95. Epub 2016 Aug 11.