X-linked intellectual disability, Pai type
A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability seizures and recurrent lower respiratory tract infections resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds high nasal bridge or small mouth) gait disturbances brisk tendon reflexes delayed bone age and tapering fingers. No evident heterozygous manifestation has been reported in females.
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.
Newly diagnosed with
X-linked intellectual disability, Pai type?
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