Microcephaly-thin corpus callosum-intellectual disability syndrome
A rare genetic syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay as well as moderate to profound intellectual disability difficulty or inability to walk pyramidal signs (including spasticity hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus strabismus and abnormal retinal pigmentation) foot deformity and genital anomalies may also be associated.
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 September 2023.
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Microcephaly-thin corpus callosum-intellectual disability syndrome?
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