Human (46 sources):
Abnormal cerebral white matter morphology,
Abnormal pinna morphology,
Arrhythmia,
Ataxia,
Cataract,
Cerebellar atrophy,
Cerebral atrophy,
Choreoathetosis,
Concave nasal ridge,
Delayed myelination,
Downslanted palpebral fissures,
Dysphagia,
Dystonia,
Elevated circulating hepatic transaminase concentration,
Encephalopathy,
Epicanthus,
Everted lower lip vermilion,
Failure to thrive,
Gastroesophageal reflux,
Generalized hypotonia,
Global developmental delay,
Growth delay,
Hyperalaninemia,
Hypertrophic cardiomyopathy,
Hypoplasia of the corpus callosum,
Hypospadias,
Hypotonia,
Increased circulating lactate concentration,
Lactic acidosis,
Leukodystrophy,
Microcephaly,
Mitochondrial respiratory chain defects,
Narrow face,
Neutropenia,
Nystagmus,
Plagiocephaly,
Protruding ear,
Recurrent infections,
Renal tubular acidosis,
Scoliosis,
Seizure,
Severe global developmental delay,
Short foot,
Skeletal muscle atrophy,
Small for gestational age,
Thick eyebrow
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