Cerebellar hypoplasia and Cohen syndrome: a confirmed association

Am J Med Genet A. 2010 Sep;152A(9):2390-3. doi: 10.1002/ajmg.a.33569.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / pathology
  • Cerebellar Diseases
  • Cerebellum / abnormalities*
  • Cerebellum / pathology
  • Child
  • DNA Mutational Analysis
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics
  • Developmental Disabilities / pathology
  • Fingers / abnormalities
  • Fingers / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology
  • Magnetic Resonance Imaging
  • Male
  • Microcephaly / diagnosis
  • Microcephaly / genetics
  • Microcephaly / pathology
  • Muscle Hypotonia / diagnosis
  • Muscle Hypotonia / genetics
  • Muscle Hypotonia / pathology
  • Myopia / diagnosis
  • Myopia / genetics
  • Myopia / pathology
  • Obesity / diagnosis
  • Obesity / genetics
  • Obesity / pathology
  • Retinal Degeneration

Supplementary concepts

  • Cohen syndrome