hereditary spastic paraplegia 49
Findings
No curated finding names hereditary spastic paraplegia 49 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014016), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
28 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.
- AreflexiaHPOHP:0001284
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- BrachycephalyHPOHP:0000248
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Broad neckHPOHP:0000475
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Central apneaHPOHP:0002871
- 5 of 5 reported patients
- Occasional (5% to 29% of cases)
- Cerebral atrophyHPOHP:0002059
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Dental crowdingHPOHP:0000678
Show the remaining 16
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Low anterior hairlineHPOHP:0000294
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Round faceHPOHP:0000311
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Short neckHPOHP:0000470
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Short statureHPO
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.
- TECPR2HGNC:19957
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2015
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: hereditary spastic paraplegia 49
- Also called
- autosomal recessive spastic paraplegia type 49hereditary spastic paraplegia caused by mutation in TECPR2hereditary spastic paraplegia type 49neuropathy, hereditary sensory and autonomic, type IX, with developmental delaySPG49TECPR2 hereditary spastic paraplegia