spastic paraplegia 87, autosomal recessive
MONDO:0031019Mondo
Findings
No curated finding names spastic paraplegia 87, 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 · Childhood onset
HPO, annotations 2026-09-02
Features
15 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
- 5 of 5 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 7 of 7 reported patients
- HyperreflexiaHPOHP:0001347
- 7 of 7 reported patients
- Lower limb hyperreflexiaHPOHP:0002395
- 7 of 7 reported patients
- Lower limb spasticityHPOHP:0002061
- 7 of 7 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 5 of 5 reported patients
- Spastic gaitHPOHP:0002064
- 7 of 7 reported patients
- Lumbar hyperlordosisHPOHP:0002938
- 4 of 7 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 7 reported patients
- NystagmusHPOHP:0000639
- 1 of 7 reported patients
- StrabismusHPOHP:0000486
- 1 of 7 reported patients
- DysarthriaHPOHP:0001260
- 0 of 7 reported patients
Show the remaining 3
- DystoniaHPOHP:0001332
- 0 of 5 reported patients
- Upper limb hyperreflexiaHPOHP:0007350
- 0 of 5 reported patients
- Upper limb spasticityHPOHP:0006986
- 0 of 5 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.
- TMEM63CHGNC:23787
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2022
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: spastic paraplegia 87, autosomal recessive
- Also called
- autosomal recessive spastic paraplegia type 87SPG87