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 September 2023.
Newly diagnosed with
X-linked intellectual disability, Nascimento type?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.