Overview
ISCA1 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.
Cerebral pachygyria
Always present (100%)HP:0001302
Dilated cerebral ventricle
Always present (100%)HP:0002119
Feeding difficulties
Always present (100%)HP:0011968
Increased reflexes
Always present (100%)HP:0001347
Involuntary muscle stiffness, contraction, or spasm
Always present (100%)HP:0001257
Leukodystrophy
Always present (100%)HP:0002415
Psychomotor development deficiency
Always present (100%)HP:0001263
Seizures
Always present (100%)HP:0001250
Elevated circulating creatine phosphokinase
Frequent (30-79%)HP:0003236
Squint
Frequent (30-79%)HP:0000486
Decreased size of cranium
Very rare (1-4%)HP:0000252
Pigmentary retinopathy
Very rare (1-4%)HP:0000580
Delayed myelination
HP:0012448
Growth deficiency
HP:0001510
Increased blood lactate
HP:0002151
Psychomotor regression beginning in infancy
HP:0002376
Quick Facts
- SNOMED CT
- 1279890001
- UMLS CUI
- C4539919
- Fully Specified Name
- Multiple mitochondrial dysfunctions syndrome type 5 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 16
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.