megalencephalic leukoencephalopathy with subcortical cysts 3
MONDO:0957533Mondo
Findings
No curated finding names megalencephalic leukoencephalopathy with subcortical cysts 3 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
18 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
- 3 of 3 reported patients
- ClumsinessHPOHP:0002312
- 3 of 3 reported patients
- DementiaHPOHP:0000726
- 3 of 3 reported patients · Juvenile onset
- DysarthriaHPOHP:0001260
- 3 of 3 reported patients
- Loss of ambulationHPOHP:0002505
- 2 of 2 reported patients
- Lower limb spasticityHPOHP:0002061
- 3 of 3 reported patients
- MacrocephalyHPOHP:0000256
- 3 of 3 reported patients · Infantile onset
- Motor deteriorationHPOHP:0002333
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- SpasticityHPOHP:0001257
- 3 of 3 reported patients
- Upper limb spasticityHPOHP:0006986
- 3 of 3 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 3 reported patients
Show the remaining 6
- Limb ataxiaHPOHP:0002070
- 2 of 3 reported patients
- Motor delayHPOHP:0001270
- 2 of 3 reported patients
- RigidityHPOHP:0002063
- 1 of 2 reported patients
- DepressionHPOHP:0000716
- 1 of 3 reported patients
- DysphagiaHPOHP:0002015
- 1 of 3 reported patients
- DystoniaHPOHP:0001332
- 1 of 3 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.
- GPRC5BHGNC:13308
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of