Galloway-Mowat syndrome 5
MONDO:0033009Mondo
Findings
No curated finding names Galloway-Mowat syndrome 5 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
- Childhood onset
HPO, annotations 2026-09-02
Features
21 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.
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Focal segmental glomerulosclerosisHPOHP:0000097
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Large earlobeHPOHP:0009748
- 1 of 1 reported patient
- Long faceHPOHP:0000276
- 1 of 1 reported patient
- Mandibular prognathiaHPOHP:0000303
- 1 of 1 reported patient
- Primary microcephalyHPOHP:0011451
- 2 of 2 reported patients
- ProteinuriaHPOHP:0000093
- 2 of 2 reported patients
- SpasticityHPOHP:0001257
- 2 of 2 reported patients
Show the remaining 9
- Steroid-resistant nephrotic syndromeHPOHP:0012588
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 1 of 2 reported patients
- Brain atrophyHPOHP:0012444
- 1 of 2 reported patients
- EdemaHPOHP:0000969
- 1 of 2 reported patients
- Hearing impairmentHPOHP:0000365
- 1 of 2 reported patients
- PachygyriaHPOHP:0001302
- 1 of 2 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.
- TPRKBHGNC:24259
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Ambry Genetics · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
- Limited · G2P · Autosomal recessive · 2019
Where it sits
- A kind of