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White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

Disease definition

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.

ORPHA:3207

Classification level: Disorder
  • Synonym(s):
    • Curatolo-Cilio-Pessagno syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: -
  • OMIM: -
  • UMLS: C2931292
  • MeSH: -
  • GARD: 5560
  • MedDRA: -
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