Overview
FAR1 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.
Decreased size of cranium
Always present (100%)HP:0000252
Intellectual disability, profound
Always present (100%)HP:0002187
Involuntary muscle stiffness, contraction, or spasm
Always present (100%)HP:0001257
Neurodevelopmental regression
Always present (100%)HP:0002376
Cataract
Frequent (30-79%)HP:0000518
Coarse face
Frequent (30-79%)HP:0000280
Decreased body height
Frequent (30-79%)HP:0004322
Delayed CNS myelination
Frequent (30-79%)HP:0002188
Distortion of face
Frequent (30-79%)HP:0001999
Dull intelligence
Frequent (30-79%)HP:0001249
Growth deficiency
Frequent (30-79%)HP:0001510
Juvenile cataract
Frequent (30-79%)HP:0001118
Mental and motor retardation
Frequent (30-79%)HP:0001263
Microcephaly, progressive
Frequent (30-79%)HP:0000253
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Seizures
Frequent (30-79%)HP:0001250
Spastic tetraparesis
Frequent (30-79%)HP:0001285
Supratentorial atrophy
Frequent (30-79%)HP:0002059
Vermian atrophy
Frequent (30-79%)HP:0006855
Dandy-Walker cyst
Occasional (5-29%)HP:0001305
Decreased volume of upper lip
Occasional (5-29%)HP:0000219
Depressed nasal root/bridge
Occasional (5-29%)HP:0005280
Eyelid ptosis
Occasional (5-29%)HP:0000508
Flat philtrum
Occasional (5-29%)HP:0000319
Inability to walk
Occasional (5-29%)HP:0002540
Increased distance between eyes
Occasional (5-29%)HP:0000316
Increased length of philtrum
Occasional (5-29%)HP:0000343
Infratentorial atrophy
Occasional (5-29%)HP:0001272
Large ears
Occasional (5-29%)HP:0000400
Nasal hypoplasia
Occasional (5-29%)HP:0003196
Related Conditions
Inherited metabolic disorder of nervous system(parent)
Small stature(parent)
Loss of single peroxisomal function(parent)
Developmental hereditary disorder(parent)
Severe mental retardation (I.Q. 20-34)(parent)
Epilepsy(parent)
Recessive hereditary disorder (autosomal)(parent)
Global developmental delay(parent)
Multiple system malformation syndrome(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 1237619001
- UMLS CUI
- C4015344
- Fully Specified Name
- Fatty acyl-coenzyme A reductase 1 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.