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Corpus callosum agenesis-abnormal genitalia syndrome

Disease definition

Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed.

ORPHA:2508

  • Synonym(s):
    • ACC-abnormal genitalia syndrome
    • Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
    • Proud syndrome
    • Proud-Levine-Carpenter syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 300004
  • UMLS: -
  • MeSH: -
  • GARD: 4528
  • MedDRA: -

Additional information

Further information on this disease

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