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neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

MONDO:0958231

Also known as:PUM1-associated developmental disability-ataxia-seizure syndrome

Overview

Any neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor overall growth, severely impaired motor development, and dysmorphic facial features due to a variation in the PUM1 gene.

GeneticsAutosomal dominant · PUM1 (chr 1)

ResearchLimited published research (7 articles)

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: Bilateral tonic-clonic seizure, Toe syndactyly, Low muscle tone (hypotonia), and Appendicular hypotonia and others; and very common findings: High palate. 49 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Bilateral tonic-clonic seizure, Ataxia, Intellectual disability

Genetic Landscape

PUM1 function has not been fully characterized.

Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism is associated with mutations in the PUM1 gene on chromosome 1.

Diagnosis

Genetic testing for PUM1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 29 always present features, 1 very common feature, 16 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism.

7 publications have been identified in PubMed for neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (29%), and Basic Science / Preclinical (14%).

Recent Publications

Abdel-Ghafar SF (2026). [PMID: 41025723](https://pubmed.ncbi.nlm.nih.gov/41025723/). *Clin Genet*. [Case Report / Case Series]
Balestrini S (2026). [PMID: 41137852](https://pubmed.ncbi.nlm.nih.gov/41137852/). *Epilepsia*. [Review / Meta-Analysis]
De Falco A (2025). [PMID: 39603091](https://pubmed.ncbi.nlm.nih.gov/39603091/). *Eur J Paediatr Neurol*. [Epidemiology / Natural History]
Fenton TA (2025). [PMID: 40382580](https://pubmed.ncbi.nlm.nih.gov/40382580/). *J Neurodev Disord*. [Basic Science / Preclinical]
Deng Y (2025). [PMID: 41147347](https://pubmed.ncbi.nlm.nih.gov/41147347/). *Birth Defects Res*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620719

Orphanet

European rare disease database

Orphanet:589515

Questions for Your Care Team

→Should I pursue genetic testing for PUM1, 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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neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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