Combined oxidative phosphorylation deficiency 53
- Synonyms
- ELBRACHT-ISIKAY SYNDROME; GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE MICROCEPHALY, STRUCTURAL BRAIN ABNORMALITIES, AND AUTOINFLAMMATION
Summary
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Hypochromic microcytic anemia
Hypochromic microcytic anemia
- MedGen UID: 124413
- Concept ID: C0271901
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Hypochromic microcytic anemia
- Abnormality of metabolism/homeostasis
- Elevated circulating C-reactive protein concentration
Elevated circulating C-reactive protein concentration
- MedGen UID: 892906
- Concept ID: C4023452
- Finding: Finding
Abnormality of metabolism/homeostasis
- Recurrent fever
Recurrent fever
- MedGen UID: 811468
- Concept ID: C3714772
- Finding: Sign or Symptom
Abnormality of metabolism/homeostasis
- Elevated circulating C-reactive protein concentration
- Abnormality of the digestive system
- Abdominal distention
Abdominal distention
- MedGen UID: 34
- Concept ID: C0000731
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Abdominal distention
- Abnormality of the immune system
- Osteomyelitis
Osteomyelitis
- MedGen UID: 10497
- Concept ID: C0029443
- Finding: Disease or Syndrome
Abnormality of the immune system
- Osteomyelitis
- Abnormality of the musculoskeletal system
- Arthritis
Arthritis
- MedGen UID: 2043
- Concept ID: C0003864
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Generalized amyotrophy
Generalized amyotrophy
- MedGen UID: 234650
- Concept ID: C1389113
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Infective arthritis
Infective arthritis
- MedGen UID: 13918
- Concept ID: C0003869
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Secondary microcephaly
Secondary microcephaly
- MedGen UID: 608952
- Concept ID: C0431352
- Finding: Finding
Abnormality of the musculoskeletal system
- Arthritis
- Abnormality of the nervous system
- CNS hypomyelination
CNS hypomyelination
- MedGen UID: 892446
- Concept ID: C4025616
- Finding: Finding
Abnormality of the nervous system
- Dysplastic corpus callosum
Dysplastic corpus callosum
- MedGen UID: 98128
- Concept ID: C0431369
- Finding: Congenital Abnormality
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
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- CNS hypomyelination
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Failure to thrive
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