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neurodevelopmental disorder with hypotonia and characteristic brain abnormalities - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodevelopmental disorder with hypotonia and characteristic brain abnormalities

MONDO:0958278

Overview

GeneticsAutosomal dominant · SLC4A10 (chr 2)

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: Low muscle tone (hypotonia) and Ataxia; and very common findings: Global developmental delay and Axial hypotonia. 51 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Seizure, Ataxia, Aggressive behavior

Genetic Landscape

SLC4A10 function has not been fully characterized.

Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities is associated with mutations in the SLC4A10 gene on chromosome 2.

Diagnosis

Genetic testing for SLC4A10 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 2 very common features, 19 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 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities.

20 publications have been identified in PubMed for neurodevelopmental disorder with hypotonia and characteristic brain abnormalities. Research spans Case Report / Case Series (37%), Basic Science / Preclinical (37%), and Epidemiology / Natural History (26%).

Research Type	Count	% of Total
Patient case studies	7	37%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620746

Orphanet

European rare disease database

Orphanet:664430

Questions for Your Care Team

→Should I pursue genetic testing for SLC4A10, 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

neurodevelopmental disorder with hypotonia and characteristic brain abnormalities

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

neurodevelopmental disorder with hypotonia and characteristic brain abnormalities

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications