leukoencephalopathy with calcifications and cysts
MONDO:0013803Mondo
Findings
No curated finding names leukoencephalopathy with calcifications and cysts 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 · Middle age onset · Juvenile onset · Progressive · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
29 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 calcificationHPOHP:0002514
- Very frequent (80% to 99% of cases)
- Intracranial cystic lesionHPOHP:0010576
- Very frequent (80% to 99% of cases)
- LeukoencephalopathyHPOHP:0002352
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- 5 of 40 reported patients
- Frequent (30% to 79% of cases)
- Basal ganglia calcificationHPOHP:0002135
- Frequent (30% to 79% of cases)
- Cerebellar dentate nucleus calcificationHPOHP:0002461
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- Emotional labilityHPOHP:0000712
- Frequent (30% to 79% of cases)
- Intracerebral periventricular calcificationsHPOHP:0007229
- Frequent (30% to 79% of cases)
- Mental deteriorationHPOHP:0001268
- 8 of 40 reported patients
- Frequent (30% to 79% of cases)
- Rosenthal fibersHPOHP:0100320
- Frequent (30% to 79% of cases)
Reported absent (1)
- Cerebral atrophyHPOHP:0002059
Show the remaining 17
- SeizureHPOHP:0001250
- 16 of 40 reported patients
- Frequent (30% to 79% of cases)
- Subcortical white matter calcificationsHPOHP:0007346
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 20 of 40 reported patients
- Occasional (5% to 29% of cases)
- Cerebral hemorrhageHPOHP:0001342
- Occasional (5% to 29% of cases)
- DysarthriaHPOHP:0001260
- Occasional (5% to 29% of cases)
- DystoniaHPOHP:0001332
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.
- HGNC:32952HGNC:32952
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2022
- Moderate · Laboratory for Molecular Medicine · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
2 names
Resolves to: leukoencephalopathy with calcifications and cysts
- Also called
- LCCleukoencephalopathy, brain calcifications, and cysts