xanthelasma, fractures, atherosclerosis, dementia, spinal cord paresis, cerebellar ataxia, developmental disability, pseudobulbar paralysis, leukodystrophy, peripheral neuropathy
[msdmanuals.com]
Xanthoma tuberosum References Millat et al., (2005) Mol Genet Metab 86:220-232 Park et al., (2003) Hum Mut 22:313 Verot et al., (2007) Clin Genet 71:320-30 Sevin et al.,
[genedx.com]
[…] lipidosis; 213700*) Sterol 27-hydroxylase Onset: Adolescence Urine metabolites: Elevated 7-alpha-hydroxylated bile alcohol Clinical features: Juvenile cataracts, tendon and skin xanthomas
[msdmanuals.com]