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severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

MONDO:0010334

Also known as:deafness, dystonia, and cerebral hypomyelination, X-linked recessiveDDCHcontiguous ABCD1/Dxs1375E deletion syndrome

Overview

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).

GeneticsX-linked · BCAP31 (chr X)

ResearchLimited published research (6 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: Microcephaly, Dystonia, Global developmental delay, and Cerebral hypomyelination and others; and very common findings: Strabismus and Tetraplegia. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Brain shrinkage (cerebral atrophy), 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.

BCAP31 encodes B cell receptor associated protein 31 (246 aa). Functions as a chaperone protein. Is one of the most abundant endoplasmic reticulum (ER) proteins. Highest expression in Adipose Subcutaneous (228.6 TPM) and Adipose Visceral Omentum (219.7 TPM).

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is caused by mutations in the BCAP31 gene on chromosome X.

BCAP31 is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for BCAP31 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features, 2 very common features, 5 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 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome.

6 publications have been identified in PubMed for severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Diagnostic / Biomarker (17%).

Recent Publications

Paucar M (2025). [PMID: 39831730](https://pubmed.ncbi.nlm.nih.gov/39831730/). *Movement disorders : official journal of the Movement Disorder Society*. [Case Report / Case Series]
Vaz FM (2025). [PMID: 38693715](https://pubmed.ncbi.nlm.nih.gov/38693715/). *Journal of inherited metabolic disease*. [Basic Science / Preclinical]
Bonati MT (2024). [PMID: 38927613](https://pubmed.ncbi.nlm.nih.gov/38927613/). *Genes*. [Review / Meta-Analysis]
Makio T (2024). [PMID: 39070058](https://pubmed.ncbi.nlm.nih.gov/39070058/). *Contact (Thousand Oaks (Ventura County, Calif.))*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 9:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300475

Orphanet

European rare disease database

Orphanet:369939

GARD

Genetic and Rare Diseases Info Center

GARD:17592

Questions for Your Care Team

→Should female family members consider carrier screening for BCAP31?
→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

severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Smoking Rates Highest Among People with Disabilities

severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Smoking Rates Highest Among People with Disabilities