Details of Disease

General Information of Disease (ID: DIS9V7SK)

Disease Name Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DIS9V7SK: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
Disease Identifiers
MONDO ID
MONDO_0859295
UMLS CUI
C5774228
OMIM ID
620070
MedGen ID
1824001

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
DPH5 OT9UKOPV Strong Autosomal recessive [1]
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References

1 A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Genet Med. 2022 Jul;24(7):1567-1582. doi: 10.1016/j.gim.2022.03.014. Epub 2022 Apr 28.