Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal pupil morphology
Very frequent (80-99%)HP:0000615
Abnormal urinary amino-acid findings
Very frequent (80-99%)HP:0003355
Areflexia
Very frequent (80-99%)HP:0001284
Cataract
Very frequent (80-99%)HP:0000518
Congenital hypotonia
Very frequent (80-99%)HP:0001319
Decreased body height
Very frequent (80-99%)HP:0004322
Dehydration
Very frequent (80-99%)HP:0001944
Depression
Very frequent (80-99%)HP:0000716
Difficulty finding words
Very frequent (80-99%)HP:0002381
Excessive, persistent worry and fear
Very frequent (80-99%)HP:0000739
Glomerulopathy
Very frequent (80-99%)HP:0100820
Hypercalciuria
Very frequent (80-99%)HP:0002150
Hyponatremia
Very frequent (80-99%)HP:0002902
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Low intelligence
Very frequent (80-99%)HP:0001249
Morphologic abnormality of the renal tubules
Very frequent (80-99%)HP:0000091
Proteinuria
Very frequent (80-99%)HP:0000093
Proximal tubular acidosis
Very frequent (80-99%)HP:0002049
Renal failure in adulthood
Very frequent (80-99%)HP:0000083
Repetitive behaviour Stereotypic behaviour
Very frequent (80-99%)HP:0000733
Voice abnormality
Very frequent (80-99%)HP:0001608
Wandering eye
Very frequent (80-99%)HP:0000646
Abnormal Ca2+ PO4 regulating hormone level
Frequent (30-79%)HP:0100530
Arthritis
Frequent (30-79%)HP:0001369
Autoagression
Frequent (30-79%)HP:0100716
Benign neoplasm of the CNS
Frequent (30-79%)HP:0100835
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Clonus
Frequent (30-79%)HP:0002169
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Cryptorchidism
Frequent (30-79%)HP:0000028
Related Conditions
Multiple malformation syndrome with unusual brain and/or neuromuscular findings(parent)
Metabolic renal disease(parent)
Hereditary disorder of nervous system(parent)
Amino acid transport disorder(parent)
Congenital anomaly of the kidney(parent)
Hereditary nephropathy(parent)
Hereditary disorder of the visual system(parent)
Renal tubular disorder(parent)
Congenital anomaly of brain(parent)
Developmental hereditary disorder(parent)
X-linked recessive hereditary disease(parent)
Congenital cataract(parent)
Genetic intellectual disability(parent)
Abnormality of nephron morphology(parent)
Quick Facts
- SNOMED CT
- 79385002
- UMLS CUI
- C0028860
- Fully Specified Name
- Lowe syndrome (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.