Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

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Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay severe intellectual disability growth deficiency microcephaly strabismus blue-gray sclerae and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy thin corpus callosum ventriculomegaly or arachnoid cysts.

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 February 2024

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