Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal skeletal development
Very frequent (80-99%)HP:0002652
Abnormality of adipose tissue
Very frequent (80-99%)HP:0009124
Anomaly of the epiphyses
Very frequent (80-99%)HP:0005930
Arthralgias
Very frequent (80-99%)HP:0002829
Behavioral symptoms
Very frequent (80-99%)HP:0000708
Bone cyst
Very frequent (80-99%)HP:0012062
Bone pain
Very frequent (80-99%)HP:0002653
Cerebral cortex atrophy
Very frequent (80-99%)HP:0002120
Decreased bone mineral density Z score
Very frequent (80-99%)HP:0004349
Dilated cerebral ventricle
Very frequent (80-99%)HP:0002119
Frontal lobe dementia
Very frequent (80-99%)HP:0000727
Impulse control disorders
Very frequent (80-99%)HP:0000734
Irritability
Very frequent (80-99%)HP:0000737
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Memory impairment
Very frequent (80-99%)HP:0002354
Neurodevelopmental regression
Very frequent (80-99%)HP:0002376
Personality changes
Very frequent (80-99%)HP:0000751
Abnormal deposits of calcium in the brain
Frequent (30-79%)HP:0002514
Abnormal vocalization
Frequent (30-79%)HP:0002167
Abnormality of movement
Frequent (30-79%)HP:0100022
Choreatic disease
Frequent (30-79%)HP:0002072
Disturbed sensory perception
Frequent (30-79%)HP:0010524
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Oculomotor apraxia
Frequent (30-79%)HP:0000657
Seizures
Frequent (30-79%)HP:0001250
Acute leukemias
Occasional (5-29%)HP:0002488
Functional abnormality of the gastrointestinal tract
Occasional (5-29%)HP:0012719
Nonsyndromal hydrocephalus
Occasional (5-29%)HP:0000238
Quick Facts
- SNOMED CT
- 702347001
- UMLS CUI
- C1857316
- Fully Specified Name
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.