This a rare disability and as expected there is limited information and case studies to help us set some expectations with Luis. However with the information available from our research and the support of the team at Orpahanet, we have been able to put together some details below that gives an overview.
Through Luis' blogs we hope to add more content from his experiences and additional research that may expand that information.
X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.
The above information was provided by:
Orphanet: an online rare disease and orphan drug data base. © INSERM 1999. Available on https://www.orpha.net
(or the link to the precise page https://www.orpha.net/en/disease/detail/163956).
Accessed (16/05/2024).
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