Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability as well as variable other manifestations such as macro- or microcephaly epilepsy hypotonia behavioral problems stereotypic movements and facial dysmorphism (including arched eyebrows long palpebral fissures prominent nasal bridge upturned nose dysplastic ears and broad mouth) among others. Brain imaging may show cerebellar anomalies hypoplastic corpus callosum enlarged ventricles polymicrogyria or white matter abnormalities.
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-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom?
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