spastic paraplegia 89, autosomal recessive
MONDO:0957274Mondo
Findings
No curated finding names spastic paraplegia 89, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
14 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.
- Lower limb hyperreflexiaHPOHP:0002395
- 20 of 20 reported patients
- Motor delayHPOHP:0001270
- 20 of 20 reported patients
- Spastic paraplegiaHPOHP:0001258
- 20 of 20 reported patients
- Thin corpus callosumHPOHP:0033725
- 5 of 9 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 4 of 20 reported patients
- SeizureHPOHP:0001250
- 4 of 20 reported patients
- Axial hypotoniaHPOHP:0008936
- 2 of 20 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 2 of 20 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 16 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 1 of 19 reported patients
- AtaxiaHPOHP:0001251
- 0 of 19 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 0 of 20 reported patients
Show the remaining 2
- Developmental regressionHPOHP:0002376
- 0 of 20 reported patients
- Functional abnormality of the bladderHPOHP:0000009
- 0 of 19 reported patients
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.
- AMFRHGNC:463
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025
Where it sits
- A kind of