encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
MONDO:0032681Mondo
Findings
No curated finding names encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 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 · Progressive
HPO, annotations 2026-09-02
Features
13 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.
- Absent speechHPOHP:0001344
- 2 of 2 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 2 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 2 reported patients
- Developmental regressionHPOHP:0002376
- 2 of 2 reported patients
- Inability to walkHPOHP:0002540
- 2 of 2 reported patients
- RhabdomyolysisHPOHP:0003201
- 2 of 2 reported patients
- Secondary microcephalyHPOHP:0005484
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- Severe global developmental delayHPOHP:0011344
- 2 of 2 reported patients
- Status epilepticusHPOHP:0002133
- 2 of 2 reported patients
- TetraplegiaHPOHP:0002445
- 2 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 2 reported patients
Show the remaining 1
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 2 reported patients
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.
- TRAPPC2LHGNC:30887
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · G2P · Autosomal recessive · 2025
Where it sits
- A kind of