Familial steroid-resistant nephrotic syndrome with sensorineural deafness
- Synonyms
- Coenzyme Q10 deficiency, primary, 6
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (54 available)
Clinical features
Help- Abnormality of the genitourinary system
- Diffuse mesangial sclerosis
Diffuse mesangial sclerosis
- MedGen UID: 78698
- Concept ID: C0268747
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Focal segmental glomerulosclerosis
Focal segmental glomerulosclerosis
- MedGen UID: 4904
- Concept ID: C0017668
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Nephrolithiasis
Nephrolithiasis
- MedGen UID: 98227
- Concept ID: C0392525
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Proteinuria
Proteinuria
- MedGen UID: 10976
- Concept ID: C0033687
- Finding: Finding
Abnormality of the genitourinary system
- Stage 5 chronic kidney disease
Stage 5 chronic kidney disease
- MedGen UID: 384526
- Concept ID: C2316810
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome
- MedGen UID: 588369
- Concept ID: C0403397
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Diffuse mesangial sclerosis
- Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Seizure
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
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