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developmental and epileptic encephalopathy, 87 (DEE87) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 87

MONDO:0030059

Also known as:DEE87EIEE87EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87

Overview

GeneticsAutosomal dominant · CDK19 (chr 6)

OnsetINFANTILE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hypertonia, Wide mouth, Seizure, and Global developmental delay and others; and common findings: Brain shrinkage (cerebral atrophy), Delayed CNS myelination, Sideways curvature of the spine (scoliosis), and U-Shaped upper lip vermilion and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Brain shrinkage (cerebral atrophy), Seizure, Global developmental delay

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CDK19 encodes cyclin dependent kinase 19 (502 aa). Highest expression in Brain Spinal cord cervical c-1 (28.7 TPM) and Brain Cerebellar Hemisphere (25.4 TPM).

Developmental and epileptic encephalopathy, 87 is associated with mutations in the CDK19 gene on chromosome 6.

CDK19 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, Transcription Factor, and Tumor Suppressor categories) with score 1.7.

Diagnosis

Genetic testing for CDK19 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 10 common features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 4:08 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618916

GARD

Genetic and Rare Diseases Info Center

GARD:16393

Questions for Your Care Team

→Should I pursue genetic testing for CDK19, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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developmental and epileptic encephalopathy, 87

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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