spastic paraplegia 81, autosomal recessive
MONDO:0032905Mondo
Findings
No curated finding names spastic paraplegia 81, 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
20 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.
- Babinski signHPOHP:0003487
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 4 of 4 reported patients
- Lower limb spasticityHPOHP:0002061
- 4 of 4 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 4 of 4 reported patients
- Periventricular white matter hyperintensitiesHPOHP:0030891
- 4 of 4 reported patients
- Ankle clonusHPOHP:0011448
- 3 of 4 reported patients
- Bifid uvulaHPOHP:0000193
- 2 of 4 reported patients
- DysarthriaHPOHP:0001260
- 2 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 4 reported patients
- Motor regressionHPOHP:0033044
- 2 of 4 reported patients
Show the remaining 8
- Reduced visual acuityHPOHP:0007663
- 2 of 4 reported patients
- Retinal vascular tortuosityHPOHP:0012841
- 2 of 4 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 1 of 4 reported patients
- Cleft palateHPOHP:0000175
- 1 of 4 reported patients
- Optic atrophyHPOHP:0000648
- 1 of 4 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 4 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.
- SELENOIHGNC:29361
- Strong · G2P · Autosomal recessive · 2018
Where it sits
- A kind of