Familial acute necrotizing encephalopathy
- Synonyms
- Encephalopathy, acute, infection-induced, 3, suceptibility to; Infection-induced Acute Encephalopathy 3, Susceptibility to; Susceptibility to Acute Necrotizing Encephalopathy 1
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Clinical tests (21 available)
Clinical features
Help- Abnormality of the immune system
- Abnormality of the immune system
Abnormality of the immune system
- MedGen UID: 867388
- Concept ID: C4021753
- Finding: Pathologic Function
Abnormality of the immune system
- Pneumonia
Pneumonia
- MedGen UID: 10813
- Concept ID: C0032285
- Finding: Disease or Syndrome
Abnormality of the immune system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Hypertonia
Hypertonia
- MedGen UID: 10132
- Concept ID: C0026826
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypertonia
- Abnormality of the nervous system
- Cerebral edema
Cerebral edema
- MedGen UID: 2337
- Concept ID: C0006114
- Finding: Pathologic Function
Abnormality of the nervous system
- Coma
Coma
- MedGen UID: 1054
- Concept ID: C0009421
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Encephalopathy
Encephalopathy
- MedGen UID: 39314
- Concept ID: C0085584
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Gliosis
Gliosis
- MedGen UID: 4899
- Concept ID: C0017639
- Finding: Pathologic Function
Abnormality of the nervous system
- Increased CSF protein concentration
Increased CSF protein concentration
- MedGen UID: 329971
- Concept ID: C1806780
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Spastic tetraplegia
Spastic tetraplegia
- MedGen UID: 98433
- Concept ID: C0426970
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Tetraplegia
Tetraplegia
- MedGen UID: 19617
- Concept ID: C0034372
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral edema
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