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spastic paraplegia 18b, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 18b, autosomal recessive

MONDO:0700309

Overview

GeneticsAutosomal recessive

ResearchLimited published research (1 article)

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: Inability to walk, Biceps hyperreflexia, Intellectual disability, and Absent speech and others; and common findings: Ankle clonus. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Inability to walk, Seizure, Lower limb spasticity

Diagnosis

Biomarker and diagnostic research for spastic paraplegia 18b, autosomal recessive has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 1 common feature.

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 spastic paraplegia 18b, autosomal recessive.

1 publication has been identified in PubMed for spastic paraplegia 18b, autosomal recessive. Research spans Diagnostic / Biomarker (100%).

Recent Publications

Skrypnyk C (2024). [PMID: 39425040](https://pubmed.ncbi.nlm.nih.gov/39425040/). *BMC Pregnancy Childbirth*. [Diagnostic / Biomarker]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611225

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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spastic paraplegia 18b, autosomal recessive

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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