spastic paraplegia 93, autosomal recessive
MONDO:0975796Mondo
Findings
No curated finding names spastic paraplegia 93, 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
43 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.
- AcidosisHPOHP:0001941
- 1 of 1 reported patient
- ClonusHPOHP:0002169
- 1 of 1 reported patient
- Corpus callosum atrophyHPOHP:0007371
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 8 of 8 reported patients
- Elevated brain choline level by MRSHPOHP:0012706
- 1 of 1 reported patient
- Elevated brain lactate level by MRSHPOHP:0012707
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 1 of 1 reported patient
- Frequent fallsHPOHP:0002359
- 2 of 2 reported patients
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- Generalized-onset seizureHPOHP:0002197
- 1 of 1 reported patient
- HypoesthesiaHPOHP:0033748
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
Show the remaining 31
- Loss of ambulationHPOHP:0002505
- 1 of 1 reported patient
- Lower limb spasticityHPOHP:0002061
- 2 of 2 reported patients
- ParaplegiaHPOHP:0010550
- 10 of 10 reported patients
- Progressive spastic paraplegiaHPOHP:0007020
- 1 of 1 reported patient
- Reduced brain N-acetyl aspartate level by MRSHPOHP:0012708
- 1 of 1 reported patient
- Respiratory failureHPOHP:0002878
- 1 of 1 reported patient
Where it sits
- A kind of