leukoencephalopathy, porphyria-related
MONDO:0958226Mondo
Findings
No curated finding names leukoencephalopathy, porphyria-related 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
- Congenital onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
14 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.
- ApraxiaHPOHP:0002186
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 3 of 3 reported patients
- Loss of ambulationHPOHP:0002505
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- Optic atrophyHPOHP:0000648
- 2 of 2 reported patients
- Progressive visual lossHPOHP:0000529
- 1 of 1 reported patient
- Sensorimotor neuropathyHPOHP:0007141
- 3 of 3 reported patients
- Spastic paraparesisHPOHP:0002313
- 4 of 4 reported patients
- Unsteady gaitHPOHP:0002317
- 1 of 1 reported patient
- Increased CSF lactateHPOHP:0002490
- 2 of 3 reported patients
- Cognitive impairmentHPOHP:0100543
- 2 of 4 reported patients
Show the remaining 2
- Delayed ability to walkHPOHP:0031936
- 1 of 2 reported patients
- Hearing impairmentHPOHP:0000365
- 1 of 3 reported patients