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Periventricular ribbonlike heterotopia

MedGen UID:
Concept ID:
Disease or Syndrome
HPO: HP:0032390


Heterotopia that forms a continuous wavy line along the ventricular wall. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeriventricular ribbonlike heterotopia

Conditions with this feature

Cortical dysplasia, complex, with other brain malformations 10
MedGen UID:
Concept ID:
Disease or Syndrome
Complex cortical dysplasia with other brain malformations-10 (CDCBM10) is an autosomal recessive neurodevelopmental disorder characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. The disorder results from defective neuronal migration during brain development. Affected individuals often develop seizures, are unable to walk, and do not acquire language (summary by Lee et al., 2019). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).

Recent clinical studies


Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R
Brain 2006 Jul;129(Pt 7):1892-906. Epub 2006 May 9 doi: 10.1093/brain/awl125. PMID: 16684786

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