hereditary spastic paraplegia 50
Findings
No curated finding names hereditary spastic paraplegia 50 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 AP4M1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013048), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital 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
- 4 of 4 reported patients
- Cerebral palsyHPOHP:0100021
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- HyperreflexiaHPOHP:0001347
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 5 of 5 reported patients
- Jaw hyperreflexiaHPOHP:0033683
- 4 of 4 reported patients
- Limb hypertoniaHPOHP:0002509
Show the remaining 3
- Talipes equinovarusHPOHP:0001762
- 2 of 5 reported patients
- Optic disc pallorHPOHP:0000543
- 1 of 5 reported patients
- AtaxiaHPOHP:0001251
- 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.
- AP4M1HGNC:574
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
5 names
Resolves to: hereditary spastic paraplegia 50
- Also called
- AP4M1 hereditary spastic paraplegiahereditary spastic paraplegia caused by mutation in AP4M1hereditary spastic paraplegia type 50Spastic Paraplegia 50SPG50