A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia

Clin Dysmorphol. 2024 Apr 1;33(2):75-78. doi: 10.1097/MCD.0000000000000484. Epub 2024 Jan 5.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cerebellum / abnormalities*
  • Developmental Disabilities
  • Facies*
  • Growth Disorders*
  • Hernias, Diaphragmatic, Congenital* / diagnosis
  • Hernias, Diaphragmatic, Congenital* / genetics
  • Humans
  • Hydrocephalus*
  • Mental Retardation, X-Linked*
  • Nervous System Malformations*
  • Obesity*

Supplementary concepts

  • Cerebellar Hypoplasia
  • Clark-Baraitser syndrome