autosomal recessive complex spastic paraplegia type 9B
Findings
No curated finding names autosomal recessive complex spastic paraplegia type 9B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014702), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Gait disturbanceHPOHP:0001288
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- Spastic paraplegiaHPOHP:0001258
- 6 of 6 reported patients
- SpasticityHPOHP:0001257
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Babinski signHPOHP:0003487
- 5 of 6 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 26
- Urinary incontinenceHPOHP:0000020
- 4 of 6 reported patients
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Impaired continenceHPOHP:0031064
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ALDH18A1HGNC:9722
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · G2P · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: autosomal recessive complex spastic paraplegia type 9B
- Also called
- ALDH18A1 autosomal recessive complex spastic paraplegiaAR-SPG9Bautosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1hereditary spastic paraplegia type 9BSPG9B