Combined oxidative phosphorylation deficiency 55
Summary
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Open mouth
Open mouth
- MedGen UID: 116104
- Concept ID: C0240379
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Genu varum
Genu varum
- MedGen UID: 154257
- Concept ID: C0544755
- Finding: Finding
Abnormality of limbs
- Single transverse palmar crease
Single transverse palmar crease
- MedGen UID: 96108
- Concept ID: C0424731
- Finding: Finding
Abnormality of limbs
- Clubfoot
- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypomagnesemia
Hypomagnesemia
- MedGen UID: 57481
- Concept ID: C0151723
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypophosphatemia
Hypophosphatemia
- MedGen UID: 39327
- Concept ID: C0085682
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
Increased circulating lactate concentration
- MedGen UID: 332209
- Concept ID: C1836440
- Finding: Finding
Abnormality of metabolism/homeostasis
- Mildly elevated creatine kinase
Mildly elevated creatine kinase
- MedGen UID: 342469
- Concept ID: C1850309
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Constipation
- Abnormality of the eye
- Bilateral ptosis
Bilateral ptosis
- MedGen UID: 356120
- Concept ID: C1865916
- Finding: Disease or Syndrome
Abnormality of the eye
- Blue sclerae
Blue sclerae
- MedGen UID: 154236
- Concept ID: C0542514
- Finding: Finding
Abnormality of the eye
- Exotropia
Exotropia
- MedGen UID: 4613
- Concept ID: C0015310
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypotelorism
Hypotelorism
- MedGen UID: 96107
- Concept ID: C0424711
- Finding: Finding
Abnormality of the eye
- Progressive external ophthalmoplegia
Progressive external ophthalmoplegia
- MedGen UID: 102439
- Concept ID: C0162674
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Bilateral ptosis
- Abnormality of the genitourinary system
- Enuresis
Enuresis
- MedGen UID: 8649
- Concept ID: C0014394
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Inborn organic aciduria
Inborn organic aciduria
- MedGen UID: 66037
- Concept ID: C0241775
- Finding: Finding
Abnormality of the genitourinary system
- Medullary nephrocalcinosis
Medullary nephrocalcinosis
- MedGen UID: 588418
- Concept ID: C0403477
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Proximal tubulopathy
Proximal tubulopathy
- MedGen UID: 326534
- Concept ID: C1839603
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal Fanconi syndrome
Renal Fanconi syndrome
- MedGen UID: 137960
- Concept ID: C0341703
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Stage 3 chronic kidney disease
Stage 3 chronic kidney disease
- MedGen UID: 389222
- Concept ID: C2316787
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Enuresis
- Abnormality of the musculoskeletal system
- Hypophosphatemic rickets
Hypophosphatemic rickets
- MedGen UID: 309957
- Concept ID: C1704375
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Myopathy
Myopathy
- MedGen UID: 10135
- Concept ID: C0026848
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Proximal muscle weakness
Proximal muscle weakness
- MedGen UID: 113169
- Concept ID: C0221629
- Finding: Finding
Abnormality of the musculoskeletal system
- Type 2 muscle fiber predominance
Type 2 muscle fiber predominance
- MedGen UID: 478817
- Concept ID: C3277187
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypophosphatemic rickets
- Abnormality of the nervous system
- Absent speech
Absent speech
- MedGen UID: 340737
- Concept ID: C1854882
- Finding: Finding
Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Elevated brain lactate level by MRS
Elevated brain lactate level by MRS
- MedGen UID: 868368
- Concept ID: C4022762
- Finding: Finding
Abnormality of the nervous system
- Focal-onset seizure
Focal-onset seizure
- MedGen UID: 199670
- Concept ID: C0751495
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Mild global developmental delay
Mild global developmental delay
- MedGen UID: 861405
- Concept ID: C4012968
- Finding: Finding
Abnormality of the nervous system
- Severe global developmental delay
Severe global developmental delay
- MedGen UID: 332436
- Concept ID: C1837397
- Finding: Finding
Abnormality of the nervous system
- Thin corpus callosum
Thin corpus callosum
- MedGen UID: 1785336
- Concept ID: C5441562
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Absent speech
- Ear malformation
- High-frequency hearing impairment
High-frequency hearing impairment
- MedGen UID: 42358
- Concept ID: C0018780
- Finding: Disease or Syndrome
Ear malformation
- High-frequency hearing impairment
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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