hereditary spastic paraplegia 63
Findings
No curated finding names hereditary spastic paraplegia 63 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.
Definition from the Mondo Disease Ontology (MONDO:0014305), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
17 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.
- Abnormal periventricular white matter morphologyHPOHP:0002518
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Babinski signHPOHP:0003487
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Gait disturbanceHPOHP:0001288
- 2 of 2 reported patients
- HyperreflexiaHPOHP:0001347
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 5
- ClonusHPOHP:0002169
- 1 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 2 reported patients
- Impaired vibration sensation at anklesHPOHP:0006938
- 1 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 2 reported patients
- Spastic paraplegiaHPOHP:0001258
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.
- AMPD2HGNC:469
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
4 names
Resolves to: hereditary spastic paraplegia 63
- Also called
- AMPD2 autosomal recessive complex spastic paraplegiaautosomal recessive complex spastic paraplegia caused by mutation in AMPD2hereditary spastic paraplegia type 63SPG63