Galloway-Mowat syndrome
MONDO:0009627Mondo
Findings
No curated finding names Galloway-Mowat syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.
Definition from the Mondo Disease Ontology (MONDO:0009627), read 2026-09-29. CC BY 4.0.
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hypoplasia of the ear cartilageHPOHP:0100720
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- NephropathyHPOHP:0000112
- Very frequent (80% to 99% of cases)
- Nephrotic syndromeHPOHP:0000100
- Very frequent (80% to 99% of cases)
- ProteinuriaHPOHP:0000093
- Very frequent (80% to 99% of cases)
- Abnormality of neuronal migrationHPOHP:0002269
- Frequent (30% to 79% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- Hiatus herniaHPOHP:0002036
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- MacrotiaHPOHP:0000400
- Frequent (30% to 79% of cases)
Show the remaining 16
- PachygyriaHPOHP:0001302
- Frequent (30% to 79% of cases)
- Premature birthHPOHP:0001622
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Abnormal intervertebral disk morphologyHPOHP:0005108
- Occasional (5% to 29% of cases)
- Abnormality of immune system physiologyHPOHP:0010978
- Occasional (5% to 29% of cases)
Genes
8 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LAGE3HGNC:26058
- Supportive · Orphanet · Autosomal recessive · 2021
- NUP107HGNC:29914
- Supportive · Orphanet · Autosomal recessive · 2021
- NUP133HGNC:18016
- Supportive · Orphanet · Autosomal recessive · 2021
- OSGEPHGNC:18028
- Supportive · Orphanet · Autosomal recessive · 2021
- TP53RKHGNC:16197
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: Galloway-Mowat syndrome
- Also called
- Galloway syndromemicrocephaly-hiatus hernia-nephrotic syndromemicrocephaly, hiatal hernia and nephrotic syndromenephrosis-microcephaly syndromenephrosis-neuronal dysmigration syndromespinocerebellar ataxia, autosomal recessive 5