Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Acute encephalopathy
Always present (100%)HP:0006846
Bradycardia
Always present (100%)HP:0001662
Cerebral cortex atrophy
Always present (100%)HP:0002120
Feeding difficulties
Always present (100%)HP:0011968
Feet or buttocks of fetus positioned near opening of uterus
Always present (100%)HP:0001623
Generalised decreased muscle tone
Always present (100%)HP:0001290
Generalized tonic-clonic seizure (without specification of onset)
Always present (100%)HP:0002069
Encephalopathy
Frequent (30-79%)HP:0001298
Muscle weakness, generalised
Frequent (30-79%)HP:0003324
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Apnea
Occasional (5-29%)HP:0002104
Fluid-filled cyst in spinal cord
Occasional (5-29%)HP:0003396
Hypo/aplastic vermis
Occasional (5-29%)HP:0006817
Hypoplastic or absent corpus callosum
Occasional (5-29%)HP:0007370
Seizures
Occasional (5-29%)HP:0001250
Vomiting
Occasional (5-29%)HP:0002013
Increased distance between eyes
Very rare (1-4%)HP:0000316
Increased nasal width
Very rare (1-4%)HP:0000445
Sensorineural deafness
Very rare (1-4%)HP:0000407
Broad flat nasal bridge
HP:0000431
Degeneration of cerebellum
HP:0001272
Degeneration of cerebrum
HP:0002059
Delayed CNS myelination
HP:0002188
hyperkinetic disorder
HP:0000752
Muscle weakness
HP:0001324
Psychomotor development deficiency
HP:0001263
Quick Facts
- SNOMED CT
- 709282004
- UMLS CUI
- C1835922
- Fully Specified Name
- Deficiency of aminoacylase 1 (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.