3p deletion syndrome

Evidence-based neurology checklist on 3p deletion syndrome: Developmental features Low birth weight Hypotonia Microcephaly Trigonocephaly Developmental delay Growth retardation Neurological features Skeletal features Systemic features

Developmental features

  • Low birth weight
  • Hypotonia
  • Microcephaly
  • Trigonocephaly
  • Developmental delay
  • Growth retardation

Neurological features

Skeletal features

Systemic features

References

  1. Kaur A, Khetarpal S. 3p deletion syndrome. Indian Pediatr 2013; 50:795-796.
  2. Kuechler A, Zink AM, Wieland T, et al. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur J Hum Genet 2015; 23:753-760.

Related checklists

Loading...