Galloway-Mowat syndrome 7
MONDO:0032692Mondo
Findings
No curated finding names Galloway-Mowat syndrome 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
22 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.
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 8 of 8 reported patients
- MicrognathiaHPOHP:0000347
- 5 of 5 reported patients
- Narrow foreheadHPOHP:0000341
- 5 of 5 reported patients
- Sloping foreheadHPOHP:0000340
- 5 of 5 reported patients
- Smooth philtrumHPOHP:0000319
- 4 of 5 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 2 of 3 reported patients
- ProteinuriaHPOHP:0000093
- 3 of 5 reported patients
- Focal segmental glomerulosclerosisHPOHP:0000097
- 3 of 7 reported patients
- EdemaHPOHP:0000969
- 2 of 5 reported patients
- Single transverse palmar creaseHPOHP:0000954
- 2 of 5 reported patients
- ClinodactylyHPOHP:0030084
- 1 of 5 reported patients
Show the remaining 10
- Cubitus valgusHPOHP:0002967
- 1 of 5 reported patients
- Hallux valgusHPOHP:0001822
- 1 of 5 reported patients
- HypercholesterolemiaHPOHP:0003124
- 1 of 5 reported patients
- IgA deposition in the glomerulusHPOHP:0000794
- 1 of 5 reported patients
- KyphoscoliosisHPOHP:0002751
- 1 of 5 reported patients
- Minimal change glomerulonephritisHPOHP:0012579
- 1 of 5 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.
- NUP107HGNC:29914
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of