spastic paraplegia 88, autosomal dominant
MONDO:0859309Mondo
Findings
No curated finding names spastic paraplegia 88, 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 · Progressive
HPO, annotations 2026-09-02
Features
19 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
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 8 of 8 reported patients
- Lower limb hyperreflexiaHPOHP:0002395
- 2 of 2 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 2 of 2 reported patients
- Lower limb spasticityHPOHP:0002061
- 5 of 5 reported patients · Childhood onset
- 2 of 2 reported patients
- Motor delayHPOHP:0001270
- 8 of 8 reported patients · Infantile onset
- Muscle stiffnessHPOHP:0003552
- 2 of 2 reported patients
- Unsteady gaitHPOHP:0002317
- 2 of 2 reported patients
- Ankle clonusHPOHP:0011448
- 1 of 2 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 2 reported patients
- Distal sensory impairmentHPOHP:0002936
- 1 of 2 reported patients
Show the remaining 7
- Motor axonal neuropathyHPOHP:0007002
- 1 of 2 reported patients
- Sensory ataxiaHPOHP:0010871
- 1 of 2 reported patients
- Thin corpus callosumHPOHP:0033725
- 1 of 2 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 2 reported patients
- Agenesis of cerebellar vermisHPOHP:0002335
- 1 of 7 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 7 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.
- KPNA3HGNC:6396
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of