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developmental and epileptic encephalopathy, 70 (DEE70) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 70

MONDO:0032663

Also known as:DEE70EIEE70EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70

Overview

GeneticsAutosomal dominant · PHACTR1 (chr 6)

OnsetINFANTILE, ANTENATAL

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: Poor head control, Microcephaly, Hypsarrhythmia, and Sideways curvature of the spine (scoliosis) and others; and common findings: Polyhydramnios, Delayed CNS myelination, Cerebral cortical atrophy, and Narrow mouth and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Seizure, Cerebral cortical atrophy, Spastic tetraparesis

Genetic Landscape

PHACTR1 function has not been fully characterized.

Developmental and epileptic encephalopathy, 70 is associated with mutations in the PHACTR1 gene on chromosome 6.

Diagnosis

Genetic testing for PHACTR1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 70 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 always present features, 10 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for developmental and epileptic encephalopathy, 70.

14 publications have been identified in PubMed for developmental and epileptic encephalopathy, 70. Research spans Case Report / Case Series (50%), Epidemiology / Natural History (21%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Patient case studies	7	50%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618298

GARD

Genetic and Rare Diseases Info Center

GARD:16336

Questions for Your Care Team

→Should I pursue genetic testing for PHACTR1, 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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Kisho

developmental and epileptic encephalopathy, 70

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

developmental and epileptic encephalopathy, 70

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications