Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Nevus psiloliparus
Always present (100%)HP:0034587
Cognitive delay
Very frequent (80-99%)HP:0001263
Dull intelligence
Very frequent (80-99%)HP:0001249
Hair loss
Very frequent (80-99%)HP:0001596
Inability to make and keep healthy fat tissue
Very frequent (80-99%)HP:0009125
Multiple lipomas
Very frequent (80-99%)HP:0001012
Multiple, subcutaneous nodules
Very frequent (80-99%)HP:0001482
Neurodevelopmental abnormality
Very frequent (80-99%)HP:0012759
Noninflammatory retina disease
Very frequent (80-99%)HP:0000488
Seizures
Very frequent (80-99%)HP:0001250
Xanthomatosis
Very frequent (80-99%)HP:0000991
Abnormal deposits of calcium in the brain
Frequent (30-79%)HP:0002514
Abnormal nasolacrimal system morphology
Frequent (30-79%)HP:0000614
Abnormal vocalization
Frequent (30-79%)HP:0002167
Abnormality of the eyelashes
Frequent (30-79%)HP:0000499
Abnormality of the eyelids
Frequent (30-79%)HP:0000492
Abnormality of the skull bones
Frequent (30-79%)HP:0000929
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Absence of the septum pellucidum
Frequent (30-79%)HP:0001331
Anomaly of the face
Frequent (30-79%)HP:0000271
Astrocytoma
Frequent (30-79%)HP:0009592
Behavioral changes
Frequent (30-79%)HP:0000708
Bone cyst
Frequent (30-79%)HP:0012062
Breakdown of bone
Frequent (30-79%)HP:0002797
Capillary hemangioma
Frequent (30-79%)HP:0005306
Cerebral cortex atrophy
Frequent (30-79%)HP:0002120
Difficulty finding words
Frequent (30-79%)HP:0002381
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Echologia
Frequent (30-79%)HP:0010529
Eyelid coloboma
Frequent (30-79%)HP:0000625
Quick Facts
- SNOMED CT
- 238905009
- UMLS CUI
- C0406612
- Fully Specified Name
- Encephalocraniocutaneous lipomatosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.