X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome

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A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability dysmorphic facial features (such as prominent glabella synophrys and prognathism) generalized hirsutism bilateral single palmar creases and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum.

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 June 2024

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X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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