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Generalized cerebral atrophy/hypoplasia

MedGen UID:
870498
•Concept ID:
C4024945
•
Congenital Abnormality
Synonym: Generalized cerebral hypoplasia/atrophy
 
HPO: HP:0007058

Definition

Generalized atrophy or hypoplasia of the cerebrum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Generalized cerebral atrophy/hypoplasia

Recent clinical studies

Prognosis

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P
Cold Spring Harb Mol Case Stud 2018 Oct;4(5) Epub 2018 Oct 1 doi: 10.1101/mcs.a003160. PMID: 30054298Free PMC Article

Clinical prediction guides

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P
Cold Spring Harb Mol Case Stud 2018 Oct;4(5) Epub 2018 Oct 1 doi: 10.1101/mcs.a003160. PMID: 30054298Free PMC Article

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