Details of Disease

General Information of Disease (ID: DIS1TVDB)

Disease Name Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
Synonyms NEDDFSA; NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DIS1TVDB: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
Disease Identifiers
MONDO ID
MONDO_0032855
UMLS CUI
C5231448
OMIM ID
618659
MedGen ID
1684792

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
ZMIZ1 OT1Q9TX0 Strong Autosomal dominant [1]
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References

1 A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations. Neurogenetics. 2015 Oct;16(4):287-98. doi: 10.1007/s10048-015-0452-2. Epub 2015 Jul 11.