spastic paraplegia 86, autosomal recessive
MONDO:0030673Mondo
Findings
No curated finding names spastic paraplegia 86, 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 · Neonatal onset
HPO, annotations 2026-09-02
Features
16 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.
- Absent speechHPOHP:0001344
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 4 of 4 reported patients
- Inability to walkHPOHP:0002540
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Periventricular white matter hyperintensitiesHPOHP:0030891
- 2 of 2 reported patients
- Spastic paraplegiaHPOHP:0001258
- 4 of 4 reported patients
- Thin corpus callosumHPOHP:0033725
- 2 of 2 reported patients
- Distal muscle weaknessHPOHP:0002460
- 3 of 4 reported patients
- Babinski signHPOHP:0003487
- 2 of 3 reported patients
- ChoreoathetosisHPOHP:0001266
- 2 of 4 reported patients
- Bilateral talipes equinovarusHPOHP:0001776
- 1 of 4 reported patients
Show the remaining 4
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 1 of 4 reported patients
- ScoliosisHPOHP:0002650
- 1 of 4 reported patients
- Talipes equinovalgusHPOHP:0001772
- 1 of 4 reported patients
- AtaxiaHPOHP:0001251
- 0 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.
- ABHD16AHGNC:13921
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
Where it sits
Other names
2 names
Resolves to: spastic paraplegia 86, autosomal recessive
- Also called
- autosomal recessive spastic paraplegia type 86SPG86