Overview
Alkaline ceramidase 3 deficiency is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Appendicular spasticity
Always present (100%)HP:0034353
Areflexia
Always present (100%)HP:0001284
Coarse face
Always present (100%)HP:0000280
Decreased body height
Always present (100%)HP:0004322
Degeneration of cerebrum
Always present (100%)HP:0002059
Developmental stagnation
Always present (100%)HP:0007281
Dystonic disease
Always present (100%)HP:0001332
Flat philtrum
Always present (100%)HP:0000319
Full lower lip
Always present (100%)HP:0000179
Hyperplasia of nose
Always present (100%)HP:0000448
Hypoplasia of corpus callosum
Always present (100%)HP:0002079
Joint contracture
Always present (100%)HP:0034392
Lack of bladder control due to nervous system injury
Always present (100%)HP:0000011
Leukodystrophy
Always present (100%)HP:0002415
Low-set ears
Always present (100%)HP:0000369
Mental retardation, severe
Always present (100%)HP:0010864
Neuropathy
Always present (100%)HP:0009830
Optic disc pallor
Always present (100%)HP:0000543
Psychomotor regression beginning in infancy
Always present (100%)HP:0002376
Relatively large head
Always present (100%)HP:0004482
Sloping forehead
Always present (100%)HP:0000340
Thick eyebrow
Always present (100%)HP:0000574
Truncal hypotonia
Always present (100%)HP:0008936
Quick Facts
- SNOMED CT
- 1237515001
- UMLS CUI
- C4540358
- Fully Specified Name
- Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.