focal segmental glomerulosclerosis and neurodevelopmental syndrome
MONDO:0100111Mondo
Findings
No curated finding names focal segmental glomerulosclerosis and neurodevelopmental syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
43 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.
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 5 of 5 reported patients
- EEG with occipital epileptiform dischargesHPOHP:0033720
- 1 of 1 reported patient
- EEG with parietal epileptiform dischargesHPOHP:0033719
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Hip dislocationHPOHP:0002827
- 1 of 1 reported patient
- HypsarrhythmiaHPOHP:0002521
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- No social interactionHPOHP:0008763
- 1 of 1 reported patient
- Reduced eye contactHPOHP:0000817
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
Show the remaining 31
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
- Severe intellectual disabilityHPOHP:0010864
- 1 of 1 reported patient
- Absent speechHPOHP:0001344
- 5 of 6 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 5 reported patients
- Long philtrumHPOHP:0000343
- 3 of 5 reported patients
- HypospadiasHPOHP:0000047
- 1 of 2 reported patients · Male
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.
- TRIM8HGNC:15579
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: focal segmental glomerulosclerosis and neurodevelopmental syndrome
- Also called
- FSGSNEDS