X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome?
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