hereditary spastic paraplegia 47
Findings
No curated finding names hereditary spastic paraplegia 47 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 AP4B1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013551), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
12 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.
- Delayed ability to walkHPOHP:0031936
- 3 of 3 reported patients
- HyperreflexiaHPOHP:0001347
- 3 of 3 reported patients
- HypertoniaHPOHP:0001276
- 3 of 3 reported patients · Childhood onset
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- Neonatal hypotoniaHPOHP:0001319
- 3 of 3 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 3 of 3 reported patients
- SpasticityHPOHP:0001257
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.
- AP4B1HGNC:572
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
5 names
Resolves to: hereditary spastic paraplegia 47
- Also called
- AP4B1 hereditary spastic paraplegiahereditary spastic paraplegia caused by mutation in AP4B1hereditary spastic paraplegia type 47Spastic Paraplegia 47SPG47