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Neurology
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Cerebellar features: gait ataxia, dysarthria, dysmetria, tremor, nystagmus, swallowing deterioration; cognitive degression; pyramidal signs
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Microcephaly; seizures; extrapyramidal signs; dystonia
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Non-neurology
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Dental
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natal teeth, delayed dentition, abnormal order of teeth eruption, hypodontia
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Endocrine
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hypogonadotropic hypogonadism with delayed, arrested or absent puberty; short stature
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late-onset GH deficiency
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Ocular
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myopia
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Cataract; optic atrophy
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Bone
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short status
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Osteosclerosis; hyperostosis frontalis; thick frontal bones; Vertebral Anomalies
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Bladder
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chronic bladder dysfunction
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Brain MRI imaging
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Hypomyelination
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ventrolateral thalamus, optic radiation, globus pallidus, pyramidal tracts within the posterior limb of the internal capsule and dentate nucleus
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selective hypomyelination of the corticospinal tracts; cerebellar atrophy with or without focal hypomyelination; Involvement of the striata and red nuclei; supratentorial and infratentorial; peripheral hypomyelination
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Atrophy
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Cerebellar; thinning of the corpus callosum
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cortical
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MR spectroscopic abnormality
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decrease of choline-containing compounds;increased myoinositol
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