polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
MONDO:0020750Mondo
Findings
No curated finding names polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
23 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.
- Basal ganglia calcificationHPOHP:0002135
- 4 of 4 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 6 of 6 reported patients
- LeukoencephalopathyHPOHP:0002352
- 6 of 6 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 5 of 6 reported patients
- T2 hypointense thalamusHPOHP:0012690
- 4 of 6 reported patients
- Caudate atrophyHPOHP:0002340
- 2 of 6 reported patients
- AphasiaHPOHP:0002381
- ApraxiaHPOHP:0002186
- ArthralgiaHPOHP:0002829
- Babinski signHPOHP:0003487
- Bone cystHPOHP:0012062
- CNS demyelinationHPOHP:0007305
Show the remaining 11
- DementiaHPOHP:0000726
- DisinhibitionHPOHP:0000734
- Disturbed sensory perceptionHPOHP:0010524
- EEG abnormalityHPOHP:0002353
- Gait disturbanceHPOHP:0001288
- Memory impairmentHPOHP:0002354
- MyoclonusHPOHP:0001336
- OsteopeniaHPOHP:0000938
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.
- TREM2HGNC:17761
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018