Neonatal adrenoleukodystrophy (Q90615)
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Neonatal adrenoleukodystrophy is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and that is characterised by seizures from birth, diffuse encephalopathy, chorioretinopathy and optic nerve dysplasia, sensorineural hearing deficiency, peripheral neuropathy, facial dysmorphism, failure to thrive, severely delayed psychomotor development and multiple biochemical abnormalities, including increased plasma levels of very-long-chain fatty acids (VLCFA), phytanic acid and bile fluid trihydroxycoprostanic acid.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_478178009 |
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| English | Neonatal adrenoleukodystrophy |
Neonatal adrenoleukodystrophy is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and that is characterised by seizures from birth, diffuse encephalopathy, chorioretinopathy and optic nerve dysplasia, sensorineural hearing deficiency, peripheral neuropathy, facial dysmorphism, failure to thrive, severely delayed psychomotor development and multiple biochemical abnormalities, including increased plasma levels of very-long-chain fatty acids (VLCFA), phytanic acid and bile fluid trihydroxycoprostanic acid. |
