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neurodevelopmental disorder with hearing loss and spasticity - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodevelopmental disorder with hearing loss and spasticity

MONDO:0859206

Overview

GeneticsAutosomal recessive · AFG2B (chr 15)

ResearchLimited published research (8 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: Global developmental delay; and very common findings: Spastic tetraplegia. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Bilateral tonic-clonic seizure, Dystonia, Seizure

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.

AFG2B encodes AAA ATPase AFG2B (753 aa). ATP-dependent chaperone part of the 55LCC heterohexameric ATPase complex which is chromatin-associated and promotes replisome proteostasis to maintain replication fork progression and genome stability. Highest expression in Skin Sun Exposed Lower leg (16.9 TPM) and Cells EBV-transformed lymphocytes (16.2 TPM).

Neurodevelopmental disorder with hearing loss and spasticity is associated with mutations in the AFG2B gene on chromosome 15.

AFG2B is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for AFG2B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 7 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 hearing loss and spasticity.

10 publications have been identified in PubMed for neurodevelopmental disorder with hearing loss and spasticity. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).

Recent Publications

Nou-Fontanet L (2026). [PMID: 41933351](https://pubmed.ncbi.nlm.nih.gov/41933351/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]
Albokhari D (2026). [PMID: 42079399](https://pubmed.ncbi.nlm.nih.gov/42079399/). *Mol Genet Metab Rep*. [Case Report / Case Series]
Polczyk A (2025). [PMID: 41375745](https://pubmed.ncbi.nlm.nih.gov/41375745/). *J Clin Med*. [Case Report / Case Series]
Yuan J (2025). [PMID: 41469542](https://pubmed.ncbi.nlm.nih.gov/41469542/). *J Neurodev Disord*. [Epidemiology / Natural History]
Ni C (2025). [PMID: 40760247](https://pubmed.ncbi.nlm.nih.gov/40760247/). *Nat Cell Biol*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619616

Orphanet

European rare disease database

Orphanet:659975

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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neurodevelopmental disorder with hearing loss and spasticity

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

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Questions for Your Care Team

Questions for Your Care Team

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