Necrotizing encephalomyelopathy, subacute, of Leigh, adult
- Synonyms
- LEIGH SYNDROME, ADULT
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- David R Thorburn
- Joyeeta Rahman
- Shamima Rahman
- view full author information
Clinical features
Help- Abnormality of head or neck
- Coarse facial features
Coarse facial features
- MedGen UID: 335284
- Concept ID: C1845847
- Finding: Finding
Abnormality of head or neck
- Coarse facial features
- Abnormality of limbs
- Acroosteolysis
Acroosteolysis
- MedGen UID: 183017
- Concept ID: C0917990
- Finding: Disease or Syndrome
Abnormality of limbs
- Clubbing
Clubbing
- MedGen UID: 57692
- Concept ID: C0149651
- Finding: Anatomical Abnormality
Abnormality of limbs
- Foot acroosteolysis
Foot acroosteolysis
- MedGen UID: 871259
- Concept ID: C4025744
- Finding: Pathologic Function
Abnormality of limbs
- Acroosteolysis
- Abnormality of the cardiovascular system
- Abnormality of the cardiovascular system
Abnormality of the cardiovascular system
- MedGen UID: 116727
- Concept ID: C0243050
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Gastric hypertrophy
Gastric hypertrophy
- MedGen UID: 371801
- Concept ID: C1834341
- Finding: Finding
Abnormality of the digestive system
- Gastric ulcer
Gastric ulcer
- MedGen UID: 21330
- Concept ID: C0038358
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Gastric hypertrophy
- Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
- Abnormality of the integument
- Cutis gyrata of scalp
Cutis gyrata of scalp
- MedGen UID: 78095
- Concept ID: C0263417
- Finding: Disease or Syndrome
Abnormality of the integument
- Hyperhidrosis
Hyperhidrosis
- MedGen UID: 5690
- Concept ID: C0020458
- Finding: Finding
Abnormality of the integument
- Onychogryposis
Onychogryposis
- MedGen UID: 82671
- Concept ID: C0263537
- Finding: Disease or Syndrome
Abnormality of the integument
- Cutis gyrata of scalp
- Abnormality of the musculoskeletal system
- Arthritis
Arthritis
- MedGen UID: 2043
- Concept ID: C0003864
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Metacarpal periosteal thickening
Metacarpal periosteal thickening
- MedGen UID: 322396
- Concept ID: C1834347
- Finding: Finding
Abnormality of the musculoskeletal system
- Metatarsal periosteal thickening
Metatarsal periosteal thickening
- MedGen UID: 331721
- Concept ID: C1834349
- Finding: Finding
Abnormality of the musculoskeletal system
- Periosteal thickening of long tubular bones
Periosteal thickening of long tubular bones
- MedGen UID: 322394
- Concept ID: C1834345
- Finding: Finding
Abnormality of the musculoskeletal system
- Proximal phalangeal periosteal thickening
Proximal phalangeal periosteal thickening
- MedGen UID: 322397
- Concept ID: C1834348
- Finding: Finding
Abnormality of the musculoskeletal system
- Arthritis
- Constitutional symptom
- Arthralgia
Arthralgia
- MedGen UID: 13917
- Concept ID: C0003862
- Finding: Sign or Symptom
Constitutional symptom
- Bone pain
Bone pain
- MedGen UID: 57489
- Concept ID: C0151825
- Finding: Sign or Symptom
Constitutional symptom
- Arthralgia
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.