Galloway-Mowat syndrome 4
MONDO:0033008Mondo
Findings
No curated finding names Galloway-Mowat syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
24 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.
- Nephrotic syndromeHPOHP:0000100
- 4 of 4 reported patients
- Primary microcephalyHPOHP:0011451
- 4 of 4 reported patients
- ProteinuriaHPOHP:0000093
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 4 reported patients
- HypotoniaHPOHP:0001252
- 3 of 4 reported patients
- Congenital nephrotic syndromeHPOHP:0008677
- 2 of 4 reported patients
- PolymicrogyriaHPOHP:0002126
- 2 of 4 reported patients
- SeizureHPOHP:0001250
- 2 of 4 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 4 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 4 reported patients
- Diffuse mesangial sclerosisHPOHP:0001967
- 1 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 4 reported patients
Show the remaining 12
- Focal segmental glomerulosclerosisHPOHP:0000097
- 1 of 4 reported patients
- Hypermelanotic maculeHPOHP:0001034
- 1 of 4 reported patients
- HypertelorismHPOHP:0000316
- 1 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 4 reported patients
- Large faceHPOHP:0100729
- 1 of 4 reported patients
- PlagiocephalyHPOHP:0001357
- 1 of 4 reported patients
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.
- TP53RKHGNC:16197
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2019
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of