PedAM
Pediatric Disease Annotations & Medicines
| Disease | hypobetalipoproteinemia |
| Phenotype | C0024523|malabsorption |
| Sentences | 1 |
| PubMedID- 22027213 | First, the so-called "core" na syndromes characterized by degeneration of the basal ganglia, movement disorders, cognitive impairment and psychiatric features, and second, conditions with alteration of lipoprotein metabolism, namely abetalipoproteinemia (bassen-kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin e malabsorption, with the clinical hallmarks of peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but without movement disorders. |
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