Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome

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A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability developmental delay delayed bone age short stature generalized muscle weakness and dysmorphic facial features (such as high arched eyebrows downslanting palpebral fissures prominent nose and narrow palate and mouth). Additional reported manifestations include blue sclerae ophthalmoplegia and intention tremor. Brain imaging may show white matter abnormalities.

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 July 2024

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