General Information of Disease (ID: DISJ9LQI)

Disease Name Developmental delay with or without intellectual impairment or behavioral abnormalities
Disease Hierarchy
DISYKSRF: Genetic disease
DISJ9LQI: Developmental delay with or without intellectual impairment or behavioral abnormalities
Disease Identifiers
MONDO ID
MONDO_0859199
UMLS CUI
C5562004
OMIM ID
619575
MedGen ID
1794214

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TAOK1 TTQY9DH Strong Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TAOK1 OTFFLV6Q Strong Autosomal dominant [1]
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References

1 A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features. Mol Cytogenet. 2016 May 31;9:41. doi: 10.1186/s13039-016-0251-y. eCollection 2016.