Galloway-Mowat syndrome 1
MONDO:0033005Mondo
Findings
No curated finding names Galloway-Mowat syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
15 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.
- Cerebellar atrophyHPOHP:0001272
- 12 of 12 reported patients
- Intellectual disabilityHPOHP:0001249
- 15 of 15 reported patients
- Optic atrophyHPOHP:0000648
- 13 of 14 reported patients
- MicrocephalyHPOHP:0000252
- 13 of 15 reported patients
- Axial hypotoniaHPOHP:0008936
- 11 of 15 reported patients
- Cerebral atrophyHPOHP:0002059
- 8 of 12 reported patients
- SpasticityHPOHP:0001257
- 9 of 15 reported patients
- DystoniaHPOHP:0001332
- 8 of 15 reported patients
- ProteinuriaHPOHP:0000093
- 6 of 12 reported patients
- SeizureHPOHP:0001250
- 7 of 15 reported patients
- Sleep disturbanceHPOHP:0002360
- 4 of 9 reported patients
- Abnormality of neuronal migrationHPOHP:0002269
- 0 of 12 reported patients
Show the remaining 3
- Focal segmental glomerulosclerosisHPOHP:0000097
- Nephrotic syndromeHPOHP:0000100
- StrabismusHPOHP:0000486
Genes
1 gene
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.
- WDR73HGNC:25928
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2015
Where it sits
- A kind of