Overview
Galloway Mowat syndrome 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.
Dull intelligence
Always present (100%)HP:0001249
Infratentorial atrophy
Always present (100%)HP:0001272
Cognitive deficits
Very frequent (80-99%)HP:0100543
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Kidney damage
Very frequent (80-99%)HP:0000112
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Nephrosis
Very frequent (80-99%)HP:0000100
Optic atrophy
Very frequent (80-99%)HP:0000648
Proteinuria
Very frequent (80-99%)HP:0000093
Speech difficulties
Very frequent (80-99%)HP:0000750
Underdeveloped ear cartilage
Very frequent (80-99%)HP:0100720
Abnormality of neuronal migration
Frequent (30-79%)HP:0002269
Cerebral atrophy
Frequent (30-79%)HP:0002059
Cerebral pachygyria
Frequent (30-79%)HP:0001302
Dystonic disease
Frequent (30-79%)HP:0001332
Electroencephalogram abnormal
Frequent (30-79%)HP:0002353
Epilepsy
Frequent (30-79%)HP:0001250
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Large pinnae
Frequent (30-79%)HP:0000400
Premature birth
Frequent (30-79%)HP:0001622
Stomach hernia
Frequent (30-79%)HP:0002036
Trouble sleeping
Frequent (30-79%)HP:0002360
Truncal hypotonia
Frequent (30-79%)HP:0008936
Abnormality of immune system physiology
Occasional (5-29%)HP:0010978
Abnormality of the intervertebral disc
Occasional (5-29%)HP:0005108
Aqueductal stenosis
Occasional (5-29%)HP:0002410
Ataxia
Occasional (5-29%)HP:0001251
Central hypotonia
Occasional (5-29%)HP:0001252
Dandy-Walker cyst
Occasional (5-29%)HP:0001305
Related Conditions
Multiple system malformation syndrome(parent)
Recessive hereditary disorder (autosomal)(parent)
Steroid-unresponsive nephrotic syndrome(parent)
Disorder of neuronal migration and differentiation(parent)
Hereditary disorder of nervous system(parent)
Hereditary nephropathy(parent)
Developmental hereditary disorder(parent)
Genetic disease of glomerulus(parent)
Quick Facts
- SNOMED CT
- 721297008
- UMLS CUI
- C0795949
- Fully Specified Name
- Galloway Mowat 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.