Combined oxidative phosphorylation deficiency 47
Available tests
Clinical tests (1 available)
Clinical features
Help- Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Round face
Round face
- MedGen UID: 116087
- Concept ID: C0239479
- Finding: Finding
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Long philtrum
- Abnormality of limbs
- Cone-shaped epiphyses of the distal phalanges of the hand
Cone-shaped epiphyses of the distal phalanges of the hand
- MedGen UID: 869523
- Concept ID: C4023951
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short palm
Short palm
- MedGen UID: 334684
- Concept ID: C1843108
- Finding: Finding
Abnormality of limbs
- Toe syndactyly
Toe syndactyly
- MedGen UID: 75581
- Concept ID: C0265660
- Finding: Congenital Abnormality
Abnormality of limbs
- Cone-shaped epiphyses of the distal phalanges of the hand
- Abnormality of metabolism/homeostasis
- Dehydration
Dehydration
- MedGen UID: 8273
- Concept ID: C0011175
- Finding: Disease or Syndrome
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
- Hypoglycemia
Hypoglycemia
- MedGen UID: 6979
- Concept ID: C0020615
- 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
- Metabolic acidosis
Metabolic acidosis
- MedGen UID: 65117
- Concept ID: C0220981
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Dehydration
- Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Dysphagia
- Abnormality of the eye
- Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Cryptorchidism
- Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Platyspondyly
Platyspondyly
- MedGen UID: 335010
- Concept ID: C1844704
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Posteriorly rotated ears
Posteriorly rotated ears
- MedGen UID: 96566
- Concept ID: C0431478
- Finding: Congenital Abnormality
Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Low-set ears
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Failure to thrive
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