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spastic paraplegia 90B, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 90B, autosomal recessive

MONDO:0957309

Overview

GeneticsAutosomal recessive · SPTSSA (chr 14)

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: Short stature, Delayed ability to walk, Seizure, and Gastroesophageal reflux and others. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Difficulty swallowing (dysphagia), Absent speech, Dystonia

Genetic Landscape

SPTSSA function has not been fully characterized.

Spastic paraplegia 90B, autosomal recessive is associated with mutations in the SPTSSA gene on chromosome 14.

Diagnosis

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

Prognosis

Phenotype severity distribution: 9 always present features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620417

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 90B, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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