Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

MONDO:0044726

Also known as:Cerebrorenal syndrome, Perez typeBILAPESBirk-Landau-Perez syndrome

Overview

GeneticsAutosomal recessive · SLC30A9 (chr 4)

OnsetCHILDHOOD

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: Upslanted palpebral fissure, Failure to thrive in infancy, Strabismus, and Dystonia and others; and very common findings: Camptocormia and Limb hypertonia. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Dystonia, Delayed speech and language development, Loss of previously acquired skills (developmental regression)

Genetic Landscape

SLC30A9 function has not been fully characterized.

Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome is caused by mutations in the SLC30A9 gene on chromosome 4.

Diagnosis

Genetic testing for SLC30A9 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 33 always present features, 2 very common features, 2 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 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome.

201 publications have been identified in PubMed for psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome. Kisho has analyzed 122 by research type. Research spans Case Report / Case Series (26%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (24%).

Research Type	Count	% of Total
Patient case studies	32

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617595

Orphanet

European rare disease database

Orphanet:505242

GARD

Genetic and Rare Diseases Info Center

GARD:17943

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?

← Back to All Diseases

Kisho

psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

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

psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

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

Recent Publications