spastic paraplegia 90A, autosomal dominant
MONDO:0957308Mondo
Findings
No curated finding names spastic paraplegia 90A, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile 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.
- Appendicular spasticityHPOHP:0034353
- 2 of 2 reported patients
- Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Nevus flammeusHPOHP:0001052
- 2 of 2 reported patients
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Spastic gaitHPOHP:0002064
- 1 of 1 reported patient
- Absent speechHPOHP:0001344
- 1 of 2 reported patients
- DroolingHPOHP:0002307
- 1 of 2 reported patients
- DysphagiaHPOHP:0002015
- 1 of 2 reported patients
Show the remaining 8
- DystoniaHPOHP:0001332
- 1 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 2 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 1 of 2 reported patients
- MacrocephalyHPOHP:0000256
- 1 of 2 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 2 reported patients
- Sleep disturbanceHPOHP:0002360
- 1 of 2 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.
- SPTSSAHGNC:20361
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025
- Limited · G2P · Autosomal recessive · 2025
Where it sits
- A kind of