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But concretely, what is MYT1L ?

  • A gene that is expressed mainly before birth and almost exclusively in the central nervous system .

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  • A gene involved in the process of neurogenesis  (maturation of neurons in particular).

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  • A syndrome manifested by global developmental delay  with heterogeneous profiles . Not all patients have all the impacts of the syndrome, and the severity of these impacts varies from one patient to another.

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  • A non-degenerative pathology.

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▼  DESCRIPTION  from  IMPACTS  from  syndrome  MYT1L  ▼

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ORPHA CODE
647799

  • Orphanet code to be filled in or consulted if you are a physician, health care or social welfare professional...

  • Orphanet code to be indicated if you are a caregiver or patient

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SUMMARY AND DESCRIPTION AVAILABLE IN ENGLISH AND FRENCH

PNDS — MYT1L SYNDROME (National Diagnostic and Care Protocol)

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