Phenotype (Master List)

Neurological

 * basal ganglia lesions
 * central nervous system atrophy
 * leukodystrophy
 * encephalopathy
 * epilepsy
 * myoclonus
 * ataxia
 * migraines
 * stroke
 * peripheral neuropathy
 * infantile spasms
 * coma
 * hypotonia
 * mood disorder
 * Leigh syndrome
 * cerebellar atrophy
 * tremor
 * myopathy
 * dysphagia
 * confusion

Dermatology

 * symmetric lipomatosis

Constitutional

 * failure to thrive
 * short stature
 * IUGR
 * microcephaly
 * exercise intolerance
 * SIDS
 * anesthesia hypersensitivity

Pulmonary

 * Sleep apnea

Cardiovascular

 * cardiomyopathy
 * arrhythmia, conduction defect
 * Wolff-Parkinson White
 * heart block

Opthalmologic

 * optic neuropathy
 * optic nerve hypoplasia
 * retinal degeneration
 * night blindness
 * color vision loss
 * retinitis pigmentosa
 * ophthalmoplegia
 * loss of visual acuity

Auditory

 * sensorineural hearing loss
 * conductive hearing loss

Gastrointestinal

 * liver failure
 * liver steatosis
 * dysmotility
 * pseudo-obstruction
 * cyclic vomiting
 * diarrhea
 * constipation

Endocrine

 * hormone deficiency
 * lactic acidosis
 * diabetes mellitus

Skeletal

 * scoliosis

Renal

 * renal tubular acidosis
 * nephrotic syndrome