megalencephalic leukoencephalopathy with subcortical cysts 2A
MONDO:0013490Mondo
Findings
No curated finding names megalencephalic leukoencephalopathy with subcortical cysts 2A 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 · Infantile onset · Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
17 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.
- MacrocephalyHPOHP:0000256
- 10 of 10 reported patients
- Mental deteriorationHPOHP:0001268
- 9 of 10 reported patients
- SeizureHPOHP:0001250
- 8 of 10 reported patients
- AtaxiaHPOHP:0001251
- 7 of 10 reported patients
- DysarthriaHPOHP:0001260
- 7 of 10 reported patients
- Lower limb spasticityHPOHP:0002061
- 7 of 10 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 10 reported patients
- DysphagiaHPOHP:0002015
- 8 of 20 reported patients
- Motor delayHPOHP:0001270
- 4 of 10 reported patients
- Upper limb spasticityHPOHP:0006986
- 4 of 10 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 20 reported patients
- Cerebellar atrophyHPOHP:0001272
Show the remaining 5
- Cerebral atrophyHPOHP:0002059
- Diffuse swelling of cerebral white matterHPOHP:0007341
- Diffuse white matter abnormalitiesHPOHP:0007204
- MegalencephalyHPOHP:0001355
- Progressive neurologic deteriorationHPOHP:0002344
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.
- HEPACAMHGNC:26361
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: megalencephalic leukoencephalopathy with subcortical cysts 2A
- Also called
- megalencephalic leukoencephalopathy with subcortical cysts type 2A