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Concept information

disease > skin appendages disease > skin disease > Elejalde syndrome
disease > complex syndrome > Elejalde syndrome
disease > nervous system diseases > central nervous system diseases > Elejalde syndrome

Terme préférentiel

Elejalde syndrome  

Définition

  • Elejalde syndrome is an extremely rare autosomal recessive syndrome (only around 10 cases known) consisting of moderate pigment dilution, profound primary neurologic defects, no immune defects, and hair with metallic silvery sheen.It is associated with MYO5A. (Wikipedia)

Concept générique

Synonyme(s)

  • neuroectodermal melanolysosomal disease

Traductions

URI

http://data.loterre.fr/ark:/67375/VH8-ZZLLJ77K-B

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