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| Decreased mitochondrial number
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| Small posterior fossa
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| Flat posterior fossa
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| Prominent coccyx
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| Protruding coccyx
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| Increased mitochondrial number
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| Increased activity of mitochondrial respiratory chain
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| Cognitive impairment
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| Gastrointestinal infarctions
-
| Giant hypertrophic gastritis
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| Muscle abnormality related to mitochondrial dysfunction
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| Abnormal urinary electrolyte concentration
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| Esophageal obstruction
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| Abnormal localization of kidney
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| Albuminuria
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| Type 1 muscle fiber predominance
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| Abnormality of the cranial nerves
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| Microalbuminuria
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| Partial abdominal muscle agenesis
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| Mild proteinuria
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| Progressive hypotrichosis
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| Red hair
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| Frontal balding
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| Alopecia of scalp
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| Poliosis
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| Osteoarthritis of the first carpometacarpal joint
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| Femoral hernia
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| Heavy proteinuria
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| Diaphragmatic paralysis
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| Absent hair
-
| Brittle hair
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| Tubulointerstitial fibrosis
-
| Moderate generalized osteoporosis
-
| Non-acidotic proximal tubulopathy
-
| Hemolytic-uremic syndrome
-
| Decreased renal tubular phosphate excretion
-
| Dextrocardia
-
| Increased renal tubular phosphate reabsorption
-
| Absent glenoid fossa
-
| Aortic regurgitation
-
| Impaired reabsorption of chloride
-
| Peripheral vitreous opacities
-
| Choroidal dystrophy
-
| Juvenile zonular cataracts
-
| Weak extraocular muscles
-
| Intraocular melanoma
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| Chronic irritative conjunctivitis
-
| Multiple bilateral pneumothoraces
-
| Cortical sclerosis
-
| Chorea
-
| Hypotrophy of the small hand muscles
-
| Limb ataxia
-
| Abnormality of extrapyramidal motor function
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| Migraine
-
| Migraine with aura
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| Increased neuronal autofluorescent lipopigment
-
| Ureteral obstruction
-
| Truncal ataxia
-
| Hypoplasia of the corpus callosum
-
| Broad phalanx
-
| Unilateral brachydactyly
-
| Hyperorality
-
| Bracket metacarpal epiphyses
-
| Synostosis of carpals/tarsals
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| Lip pit
-
| Proximal symphalangism
-
| Synostosis of metacarpals/metatarsals
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| Synostosis involving digits
-
| Distal symphalangism
-
| Sclerodactyly
-
| Abnormality of T cell number
-
| Delayed talus ossification
-
| Partial IgA deficiency
-
| Moyamoya phenomenon
-
| Absent scaphoid
-
| Narrow nasal tip
-
| Overhanging nasal tip
-
| Abnormality of oral mucosa
-
| Deviated nasal tip
-
| Myelitis
-
| Positional foot deformity
-
| Broad middle phalanx of the 3rd toe
-
| Hypomethioninemia
-
| Reduced activity of N-acetylglucosaminyltransferase II
-
| Reduced dihydropyrimidine dehydrogenase activity
-
| Granular osmiophilic deposits (GROD) in cells
-
| Decreased beta-glucocerebrosidase protein and activity
-
| Foam cells
-
| Cellular metachromasia
-
| Recurrent myoglobinuria
-
| Cerebellopontine angle arachnoid cyst
-
| Generalized tonic seizures
-
| Subependymal giant-cell astrocytoma
-
| Hypomelanotic macules
-
| Subependymal nodules
-
| Cortical tubers
-
| Abnormality of the epididymis
-
| Papillary cystadenoma of the epididymis
-
| Spinal hemangioblastoma
-
| Chilblain lesions
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