encephalopathy, porphyria-related
MONDO:0958224Mondo
Findings
No curated finding names encephalopathy, 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 · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
28 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.
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Elevated urinary coproporphyrin levelHPOHP:6000536
- 2 of 2 reported patients
- Increased urine urobilinogenHPOHP:0031890
- 3 of 3 reported patients
- Optic nerve hypoplasiaHPOHP:0000609
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Reduced erythrocyte porphobilinogen deaminase activityHPOHP:4000199
- 3 of 3 reported patients
- Sensorimotor neuropathyHPOHP:0007141
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 2 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 3 reported patients
Show the remaining 16
- SplenomegalyHPOHP:0001744
- 2 of 3 reported patients
- AtaxiaHPOHP:0001251
- 1 of 2 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 1 of 2 reported patients
- Intention tremorHPOHP:0002080
- 1 of 2 reported patients
- Partial absence of cerebellar vermisHPOHP:0002951
- 1 of 2 reported patients
- Postnatal growth retardationHPOHP:0008897
- 1 of 2 reported patients