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Symbol
Name
ID

Cdkl5
cyclin dependent kinase like 5
MGI:1278336

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Secondary microcephaly

Progressive microcephaly

Drooling

Spasticity

Delayed myelination

Pachygyria

Simplified gyral pattern

Cerebral cortical atrophy

Hypoplasia of the corpus callosum

Gait ataxia

Truncal ataxia

Apraxia

Gait apraxia

Athetosis

Chorea

Myoclonus

EEG abnormality

EEG with generalized slow activity

Hypsarrhythmia

Reduced eye contact

Absent speech

Irritability

Inappropriate crying

Reduced social reciprocity

Autistic behavior

Motor stereotypy

Bruxism

Tongue thrusting

Stereotypical hand wringing

Motor deterioration

Intellectual disability, profound

Intellectual disability, severe

Dyskinesia

Dystonia

Inability to walk

Epileptic encephalopathy

Developmental regression

Global developmental delay

Motor delay

Delayed ability to sit

Delayed ability to walk

Seizure

Multifocal seizures

Generalized-onset seizure

Generalized myoclonic seizure

Infantile spasms

Disease(s) Associated with CDKL5

developmental and epileptic encephalopathy 2

Rett syndrome

Mouse Phenotypes		nervous system phenotype	seizures	abnormal seizure response to inducing agent	abnormal hippocampus layer morphology	thin hippocampus molecular cell layer	thin hippocampus stratum oriens	thin cerebral cortex	abnormal dendrite morphology	abnormal nervous system electrophysiology
Availability	Mouse Genotype	nervous system phenotype	seizures	abnormal seizure response to inducing agent	abnormal hippocampus layer morphology	thin hippocampus molecular cell layer	thin hippocampus stratum oriens	thin cerebral cortex	abnormal dendrite morphology	abnormal nervous system electrophysiology
	Cdkl5^tm1.2Cogr/Cdkl5^tm1.2Cogr
	Cdkl5^tm1.2Cogr/Cdkl5^tm1.2Cogr Tg(Thy1-YFP)#Jrs/0
	Cdkl5^tm1.2Cogr/Cdkl5⁺ Tg(Thy1-YFP)#Jrs/0
	Cdkl5^tm1.1Joez/Y	*
	Cdkl5^tm1.2Cogr/Y
	Cdkl5^tm1.2Cogr/Y Tg(Thy1-YFP)#Jrs/0

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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