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PedAM

Pediatric Disease Annotations & Medicines




Disease spastic quadriplegia
Phenotype C0020757|ichthyosis
Sentences 1
PubMedID- 22814679 spastic quadriplegia with ichthyosis and intellectual disability are the presenting signs of the elongase 4 deficiency and the sjogren-larsson syndrome caused by fatty aldehyde dehydrogenase deficiency.

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