Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6
Summary
Clinical features
Help- Abnormality of limbs
- Limb muscle weakness
Limb muscle weakness
- MedGen UID: 107956
- Concept ID: C0587246
- Finding: Finding
Abnormality of limbs
- Limb muscle weakness
- Abnormality of metabolism/homeostasis
- Elevated circulating alanine aminotransferase concentration
Elevated circulating alanine aminotransferase concentration
- MedGen UID: 57740
- Concept ID: C0151905
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating aspartate aminotransferase concentration
Elevated circulating aspartate aminotransferase concentration
- MedGen UID: 57497
- Concept ID: C0151904
- Finding: Finding
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
- Elevated circulating alanine aminotransferase concentration
- Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Gastrointestinal dysmotility
Gastrointestinal dysmotility
- MedGen UID: 324638
- Concept ID: C1836923
- Finding: Finding
Abnormality of the digestive system
- Gastroparesis
Gastroparesis
- MedGen UID: 101809
- Concept ID: C0152020
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Nausea
Nausea
- MedGen UID: 10196
- Concept ID: C0027497
- Finding: Sign or Symptom
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Dysphagia
- Abnormality of the eye
- Ophthalmoplegia
Ophthalmoplegia
- MedGen UID: 45205
- Concept ID: C0029089
- Finding: Sign or Symptom
Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Ophthalmoplegia
- Abnormality of the musculoskeletal system
- Axial muscle weakness
Axial muscle weakness
- MedGen UID: 334472
- Concept ID: C1843697
- Finding: Finding
Abnormality of the musculoskeletal system
- Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers
- MedGen UID: 330782
- Concept ID: C1842170
- Finding: Finding
Abnormality of the musculoskeletal system
- Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers
- MedGen UID: 867360
- Concept ID: C4021724
- Finding: Finding
Abnormality of the musculoskeletal system
- Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions
- MedGen UID: 479006
- Concept ID: C3277376
- 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
- Ragged-red muscle fibers
Ragged-red muscle fibers
- MedGen UID: 477048
- Concept ID: C3275417
- Finding: Finding
Abnormality of the musculoskeletal system
- Weakness of facial musculature
Weakness of facial musculature
- MedGen UID: 98103
- Concept ID: C0427055
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Axial muscle weakness
- Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- 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
- Loss of ambulation
Loss of ambulation
- MedGen UID: 332305
- Concept ID: C1836843
- Finding: Finding
Abnormality of the nervous system
- Sensorimotor neuropathy
Sensorimotor neuropathy
- MedGen UID: 207266
- Concept ID: C1112256
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Areflexia
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
- Growth abnormality
- Cachexia
Cachexia
- MedGen UID: 2773
- Concept ID: C0006625
- Finding: Sign or Symptom
Growth abnormality
- Cachexia
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