Galloway-Mowat syndrome 8
MONDO:0032693Mondo
Findings
No curated finding names Galloway-Mowat syndrome 8 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
- Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
17 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.
- Brain atrophyHPOHP:0012444
- 3 of 3 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 1 reported patient
- Focal segmental glomerulosclerosisHPOHP:0000097
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 4 of 4 reported patients
- Nephrotic syndromeHPOHP:0000100
- 4 of 4 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 4 of 4 reported patients
- ProteinuriaHPOHP:0000093
- 4 of 4 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 4 of 4 reported patients
- StrabismusHPOHP:0000486
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 3 of 4 reported patients
- Enamel hypoplasiaHPOHP:0006297
- 2 of 4 reported patients
Show the remaining 5
- Hearing impairmentHPOHP:0000365
- 2 of 4 reported patients
- Narrow foreheadHPOHP:0000341
- 2 of 4 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 3 reported patients
- Focal cortical dysplasiaHPOHP:0032046
- 1 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 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.
- NUP133HGNC:18016
- Strong · G2P · Autosomal recessive · 2019
- Limited · Ambry Genetics · Autosomal recessive · 2019
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
- A kind of