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autosomal recessive spastic paraplegia type 69 (SPG69) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive spastic paraplegia type 69

MONDO:0018421

Also known as:SPG69

Overview

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 common findings: Hearing loss (hearing impairment), Cataract, Mild intellectual disability, and Global developmental delay and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Mild intellectual disability, Global developmental delay, Lower limb spasticity

Prognosis

Phenotype severity distribution: 13 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 autosomal recessive spastic paraplegia type 69.

7 publications have been identified in PubMed for autosomal recessive spastic paraplegia type 69. Research spans Case Report / Case Series (43%), Other (29%), and Clinical Trial Publication (14%).

Recent Publications

Finsterer J (2026). [PMID: 41496376](https://pubmed.ncbi.nlm.nih.gov/41496376/). *Am J Case Rep*. [Case Report / Case Series]
Yoldaş Çelik M (2026). [PMID: 41466769](https://pubmed.ncbi.nlm.nih.gov/41466769/). *JIMD Rep*. [Other]
Zhu R (2026). [PMID: 41312619](https://pubmed.ncbi.nlm.nih.gov/41312619/). *Mov Disord*. [Other]
Choi Y (2026). [PMID: 41431411](https://pubmed.ncbi.nlm.nih.gov/41431411/). *Yonsei Med J*. [Case Report / Case Series]
Pellerin D (2025). [PMID: 39378335](https://pubmed.ncbi.nlm.nih.gov/39378335/). *Brain*. [Basic Science / Preclinical]
Ramírez RB (2025). [PMID: 39935284](https://pubmed.ncbi.nlm.nih.gov/39935284/). *Mol Genet Genomic Med*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:401830

GARD

Genetic and Rare Diseases Info Center

GARD:21699

Questions for Your Care Team

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autosomal recessive spastic paraplegia type 69

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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