spastic paraplegia 90B, autosomal recessive
MONDO:0957309Mondo
Findings
No curated finding names spastic paraplegia 90B, 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
HPO, annotations 2026-09-02
Features
18 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.
- Appendicular spasticityHPOHP:0034353
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Joint contractureHPOHP:0034392
- 1 of 1 reported patient
- MyopiaHPOHP:0000545
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Absent speechHPOHP:0001344
- 0 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 0 of 1 reported patient
- DroolingHPOHP:0002307
- 0 of 1 reported patient
Show the remaining 6
- DysphagiaHPOHP:0002015
- 0 of 1 reported patient
- DystoniaHPOHP:0001332
- 0 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 0 of 1 reported patient
- MacrocephalyHPOHP:0000256
- 0 of 1 reported patient
- Sleep disturbanceHPOHP:0002360
- 0 of 1 reported patient
- Tethered cordHPOHP:0002144
- 0 of 1 reported patient
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.
- SPTSSAHGNC:20361
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of