X-linked intellectual disability, Nascimento type

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X-linked intellectual disability, Nascimento type

Synonyms: X-linked intellectual disability-nail dystrophy-seizures syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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X-linked intellectual disability, Nascimento type?

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