Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal metabolic brain imaging by MRS
Very frequent (80-99%)HP:0012705
Central hypotonia
Very frequent (80-99%)HP:0001252
EEG with burst suppression
Very frequent (80-99%)HP:0010851
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Hyperglycinemia
Very frequent (80-99%)HP:0002154
Hypoplasia of corpus callosum
Very frequent (80-99%)HP:0002079
Recurrent hiccough
Very frequent (80-99%)HP:0100247
Seizures
Very frequent (80-99%)HP:0001250
Breathing dysregulation
Frequent (30-79%)HP:0005957
Languor
Frequent (30-79%)HP:0001254
Myoclonic epilepsy, progressive
Frequent (30-79%)HP:0002123
Poor sucking
Frequent (30-79%)HP:0002033
Respiratory acidosis
Frequent (30-79%)HP:0005972
Absence of corpus callosum
HP:0001274
Dull intelligence
HP:0001249
Encephalopathy
HP:0001298
Generalised decreased muscle tone
HP:0001290
High urine glycine levels
HP:0003108
Hyperactive behaviour
HP:0000752
Hyporeflexia
HP:0001265
Impulsivity
HP:0100710
Increased reflexes
HP:0001347
Irritable mood
HP:0000737
Jerking
HP:0001336
physical aggression
HP:0000718
Restlessness
HP:0000711
Related Conditions
Non-ketotic hyperglycinemia H protein deficiency(child)
Non-ketotic hyperglycinaemia L protein deficiency(child)
Glycine dehydrogenase (decarboxylating) deficiency(child)
Aminomethyltransferase deficiency(child)
Childhood-onset spasticity with hyperglycinaemia(child)
Infantile glycine encephalopathy(child)
Atypical glycine encephalopathy(child)
Hyperglycinemia(parent)
Quick Facts
- SNOMED CT
- 237939006
- UMLS CUI
- C0751748
- Fully Specified Name
- Non-ketotic hyperglycinemia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.