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FLASH GENE
Symbol CDKL5 contributors: mct/npt - updated : 28-01-2017
HGNC name cyclin-dependent kinase-like 5
HGNC id 11411
ASSOCIATED DISORDERS
corresponding disease(s) ISSX , EIEE2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
leading to severe neurodevelopmental disorders
constitutional       loss of function
absence or reduction of CDKL5 kinase functions have a greater impact on the nervous system than a gain of activity
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS