Nephronophthisis 15
Summary
Available tests
Clinical tests (43 available)
Clinical features
Help- Abnormality of limbs
- Polydactyly
Polydactyly
- MedGen UID: 57774
- Concept ID: C0152427
- Finding: Congenital Abnormality
Abnormality of limbs
- Polydactyly
- Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
Elevated circulating hepatic transaminase concentration
- MedGen UID: 338525
- Concept ID: C1848701
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
- Abnormality of the eye
- Blindness
Blindness
- MedGen UID: 99138
- Concept ID: C0456909
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal degeneration
Retinal degeneration
- MedGen UID: 48432
- Concept ID: C0035304
- Finding: Finding
Abnormality of the eye
- Blindness
- Abnormality of the genitourinary system
- Nephronophthisis
Nephronophthisis
- MedGen UID: 146912
- Concept ID: C0687120
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Nephronophthisis
- Abnormality of the nervous system
- Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
- MedGen UID: 333548
- Concept ID: C1840379
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar vermis hypoplasia
- Growth abnormality
- Obesity
Obesity
- MedGen UID: 18127
- Concept ID: C0028754
- Finding: Disease or Syndrome
Growth abnormality
- Obesity
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