megalencephalic leukoencephalopathy with subcortical cysts 1
MONDO:0024555Mondo
Findings
No curated finding names megalencephalic leukoencephalopathy with subcortical cysts 1 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
HPO, annotations 2026-09-02
Features
3 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
- 1 of 1 reported patient · Infantile onset
- MegalencephalyHPOHP:0001355
- 1 of 1 reported patient · Infantile onset
- SeizureHPOHP:0001250
- 1 of 1 reported patient
Genes
2 genes
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.
- MLC1HGNC:17082
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- GPRC5BHGNC:13308
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023