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Galactosylceramide beta-galactosidase deficiency
disorderSNOMED 192782005CUI C0023521
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Spasticity, progressive
Always present (100%)HP:0002191
Abnormal electromyography finding
Very frequent (80-99%)HP:0003457
Abnormality of the thumbs
Very frequent (80-99%)HP:0001172
Absent/small abdominal wall muscles
Very frequent (80-99%)HP:0010318
Ataxia
Very frequent (80-99%)HP:0001251
Behavioural/Psychiatric abnormality
Very frequent (80-99%)HP:0000708
Cloverleaf skull shape
Very frequent (80-99%)HP:0002676
Deafness
Very frequent (80-99%)HP:0000365
Feeding difficulties
Very frequent (80-99%)HP:0011968
Impaired vision
Very frequent (80-99%)HP:0000505
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Laboratory abnormality
Very frequent (80-99%)HP:0001939
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Neuropathy
Very frequent (80-99%)HP:0009830
Reduced leukocyte galactocerebrosidase activity
Very frequent (80-99%)HP:0034322
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Sensory neuropathy
Very frequent (80-99%)HP:0000763
Abnormal peripheral nerve transmission
Frequent (30-79%)HP:0003134
Epilepsy
Frequent (30-79%)HP:0001250
Hyperpyrexia
Frequent (30-79%)HP:0033031
Irritability
Frequent (30-79%)HP:0000737
Myoclonic epilepsy, progressive
Frequent (30-79%)HP:0002123
Paralysis or weakness of one side of body
Frequent (30-79%)HP:0004374
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Psychomotor regression beginning in infancy
Frequent (30-79%)HP:0002376
Pyrexia
Frequent (30-79%)HP:0001945
respiratory infections, recurrent
Frequent (30-79%)HP:0002205
Spastic paraparesis
Frequent (30-79%)HP:0002313
Truncal hypotonia
Frequent (30-79%)HP:0008936
Vomiting
Frequent (30-79%)HP:0002013
Related Conditions
Galactocerebroside beta-galactosidase deficiency - early onset(child)
Globoid cell leukodystrophy, late-onset(child)
Sphingolipidosis(parent)
Leucodystrophy(parent)
Hereditary degenerative disease of central nervous system(parent)
Recessive hereditary disorder (autosomal)(parent)
Inherited metabolic disorder of nervous system(parent)
Quick Facts
- SNOMED CT
- 192782005
- UMLS CUI
- C0023521
- Fully Specified Name
- Galactosylceramide beta-galactosidase deficiency (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.