Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Enlarged liver
Always present (100%)HP:0002240
Large spleen
Always present (100%)HP:0001744
Poorly developed lungs
Always present (100%)HP:0002089
Arthrogryposis multiplex
Very frequent (80-99%)HP:0002804
Congenital lamellar ichthyosis
Very frequent (80-99%)HP:0007479
Ichthyosiform abnormality of the skin
Very frequent (80-99%)HP:0008064
Less than 10 fetal movements in 12 hours
Very frequent (80-99%)HP:0001558
Pancytopenia
Very frequent (80-99%)HP:0001876
Central hypotonia
Frequent (30-79%)HP:0001252
Conjugated hyperbilirubinemia
Frequent (30-79%)HP:0002908
Decreased lysosomal acid glucosylceramidase activity
Frequent (30-79%)HP:0003656
Elevated serum aspartate aminotransferase
Frequent (30-79%)HP:0031956
Everted eyelid
Frequent (30-79%)HP:0000656
Flat nasal bridge
Frequent (30-79%)HP:0005280
Flexion contractures
Frequent (30-79%)HP:0001371
Hepatosplenomegaly
Frequent (30-79%)HP:0001433
High arched palate
Frequent (30-79%)HP:0000218
Low number of red blood cells or hemoglobin
Frequent (30-79%)HP:0001903
Low platelet count
Frequent (30-79%)HP:0001873
Nostrils anteverted
Frequent (30-79%)HP:0000463
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Arc de cercle
Occasional (5-29%)HP:0002179
Epilepsy
Occasional (5-29%)HP:0001250
Gastro-esophageal reflux
Occasional (5-29%)HP:0002020
Hypertonia
Occasional (5-29%)HP:0001276
Intracranial haemorrhage
Occasional (5-29%)HP:0002170
Nonimmune hydrops fetalis
Occasional (5-29%)HP:0001790
Nonsyndromal hydrocephalus
Occasional (5-29%)HP:0000238
Poor sucking
Occasional (5-29%)HP:0002033
Quick Facts
- SNOMED CT
- 870313002
- UMLS CUI
- C1842704
- Fully Specified Name
- Perinatal lethal Gaucher disease (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.