Details of Disease

General Information of Disease (ID: DIS9DBAD)

Disease Name Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
Synonyms DIGFAN
Disease Hierarchy
DISYKSRF: Genetic disease
DIS9DBAD: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
Disease Identifiers
MONDO ID
MONDO_0030835
UMLS CUI
C5436781
OMIM ID
619090
MedGen ID
1765507

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
MORC2 OT52A8BJ Strong Autosomal dominant [1]
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References

1 MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. Ann Neurol. 2016 Mar;79(3):419-27. doi: 10.1002/ana.24575. Epub 2016 Jan 13.