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microcephaly, seizures, and developmental delay - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly, seizures, and developmental delay

MONDO:0013254

Also known as:EIEE10MCSZearly infantile epileptic encephalopathy-10

Overview

A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has material basis in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.

GeneticsAutosomal recessive · PNKP (chr 19)

OnsetINFANTILE, JUVENILE

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: Microcephaly, Seizure, Shrinkage of the cerebellum (cerebellar atrophy), and Global developmental delay and others; and sometimes findings: Hyporeflexia. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Hyporeflexia, Seizure, Global developmental delay

Genetic Landscape

PNKP function has not been fully characterized.

Microcephaly, seizures, and developmental delay is caused by mutations in the PNKP gene on chromosome 19.

Diagnosis

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

Biomarker and diagnostic research for microcephaly, seizures, and developmental delay has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present 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 microcephaly, seizures, and developmental delay.

224 publications have been identified in PubMed for microcephaly, seizures, and developmental delay. Kisho has analyzed 139 by research type. Research spans Epidemiology / Natural History (24%), Basic Science / Preclinical (19%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Disease patterns and progression	34	24%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613402

Orphanet

European rare disease database

Orphanet:228418

GARD

Genetic and Rare Diseases Info Center

GARD:10933

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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

microcephaly, seizures, and developmental delay

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

microcephaly, seizures, and developmental delay

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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