megalencephalic leukoencephalopathy with subcortical cysts 4, remitting
MONDO:0957534Mondo
Findings
No curated finding names megalencephalic leukoencephalopathy with subcortical cysts 4, remitting yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
15 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.
- Cerebral subcortical cystHPOHP:6000461
- 2 of 2 reported patients
- ClumsinessHPOHP:0002312
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HyperactivityHPOHP:0000752
- 2 of 2 reported patients
- ImpulsivityHPOHP:0100710
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- MacrocephalyHPOHP:0000256
- 2 of 2 reported patients · Infantile onset
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- DysarthriaHPOHP:0001260
- 1 of 2 reported patients
- DystoniaHPOHP:0001332
- 1 of 2 reported patients
- RigidityHPOHP:0002063
- 1 of 2 reported patients
- Status epilepticusHPOHP:0002133
- 1 of 2 reported patients
Show the remaining 3
- DysphagiaHPOHP:0002015
- 0 of 2 reported patients
- Gait ataxiaHPOHP:0002066
- 0 of 2 reported patients
- SpasticityHPOHP:0001257
- 0 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.
- AQP4HGNC:637
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of