Table 2. [SUCLA2-Related Mitochondrial DNA Depletion Syndrome,...]. - GeneReviews®

Feature	% of Persons w/Feature
Development	Developmental delay / intellectual disability	95%
Regression	10%
Neuromuscular	Hypotonia	90%
Dystonia	80%
Muscle atrophy	40%
Choreoathetosis	30%
Muscle weakness	20%
Hypertonia	10%
Epilepsy	10%
Myoclonus	10%
Neuropathy	10%
Sensorineural hearing impairment	90%
Feeding/gastrointestinal	Feeding difficulties	50%
Recurrent vomiting	20%
Gastroesophageal reflux disease	10%
Growth deficiency	90%
Vision/ophthalmologic	Ptosis	20%
Ophthalmoplegia	10%
Strabismus	10%
Respiratory	Respiratory distress	10%
Recurrent respiratory infections	10%
Skeletal	Kyphoscoliosis	20%
Joint contractures	10%
Other	Hypoglycemia	10%
Hyperhidrosis	10%

From: SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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