White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

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White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

Synonyms: Curatolo-Cilio-Pessagno syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia corpus callosum agenesis or extreme hypoplasia severe intellectual disability failure to thrive and minor midline facial dysmorphism (including hypertelorism broad nasal root micrognathia). There have been no further descriptions in the literature since 1993.

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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