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Global cerebellar dysplasia

MedGen UID:
1787651
Concept ID:
C5539789
Finding
HPO: HP:0033744

Definition

A type of cerebellar dysplasia that affects the entire cerebellum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlobal cerebellar dysplasia

Professional guidelines

PubMed

Poretti A, Boltshauser E, Doherty D
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):211-26. Epub 2014 May 16 doi: 10.1002/ajmg.c.31398. PMID: 24839100

Recent clinical studies

Etiology

Liu W, Lin M, Yue Q, Gong Q, Zhou D, Wu X
Seizure 2021 Apr;87:1-6. Epub 2021 Feb 12 doi: 10.1016/j.seizure.2021.02.009. PMID: 33636448
Blondiaux E, Valence S, Friszer S, Rodriguez D, Burglen L, Ducou le Pointe H, Blouet M, Garel C
Fetal Diagn Ther 2019;45(3):197-204. Epub 2017 Jul 5 doi: 10.1159/000475989. PMID: 28675887
Poretti A, Boltshauser E, Doherty D
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):211-26. Epub 2014 May 16 doi: 10.1002/ajmg.c.31398. PMID: 24839100
Blatt J, Hamilton RL
Cancer 1998 Apr 15;82(8):1603-8. doi: 10.1002/(sici)1097-0142(19980415)82:8<1603::aid-cncr24>3.0.co;2-7. PMID: 9554540

Diagnosis

Mattioli F, Voisin N, Preikšaitienė E, Kozlovskaja I, Kučinskas V, Reymond A
Am J Med Genet A 2021 Apr;185(4):1275-1281. Epub 2021 Feb 2 doi: 10.1002/ajmg.a.62098. PMID: 33527719
Blondiaux E, Valence S, Friszer S, Rodriguez D, Burglen L, Ducou le Pointe H, Blouet M, Garel C
Fetal Diagn Ther 2019;45(3):197-204. Epub 2017 Jul 5 doi: 10.1159/000475989. PMID: 28675887
Abdel Razek AA, Castillo M
J Comput Assist Tomogr 2016 Jan-Feb;40(1):14-25. doi: 10.1097/RCT.0000000000000340. PMID: 26599961
Poretti A, Boltshauser E, Doherty D
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):211-26. Epub 2014 May 16 doi: 10.1002/ajmg.c.31398. PMID: 24839100
Garel C, Fallet-Bianco C, Guibaud L
J Child Neurol 2011 Dec;26(12):1483-92. Epub 2011 Sep 27 doi: 10.1177/0883073811420148. PMID: 21954430

Therapy

Shaw CM, Alvord EC Jr
J Child Neurol 1996 Jul;11(4):313-20. doi: 10.1177/088307389601100410. PMID: 8807422

Prognosis

Poretti A, Boltshauser E, Doherty D
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):211-26. Epub 2014 May 16 doi: 10.1002/ajmg.c.31398. PMID: 24839100
Shaw CM, Alvord EC Jr
J Child Neurol 1996 Jul;11(4):313-20. doi: 10.1177/088307389601100410. PMID: 8807422

Clinical prediction guides

Chen X, Yin W, Chen S, Zhang W, Li H, Kuang H, Zhou M, Teng Y, Zhang J, Shen G, Liang D, Li Z, Hu B, Wu L
Hum Genet 2021 May;140(5):791-803. Epub 2021 Jan 4 doi: 10.1007/s00439-020-02243-2. PMID: 33392778
Toiviainen-Salo S, Mäkitie O, Mannerkoski M, Hämäläinen J, Valanne L, Autti T
Am J Med Genet A 2008 Jun 15;146A(12):1558-64. doi: 10.1002/ajmg.a.32354. PMID: 18478597
Blatt J, Hamilton RL
Cancer 1998 Apr 15;82(8):1603-8. doi: 10.1002/(sici)1097-0142(19980415)82:8<1603::aid-cncr24>3.0.co;2-7. PMID: 9554540
Shaw CM, Alvord EC Jr
J Child Neurol 1996 Jul;11(4):313-20. doi: 10.1177/088307389601100410. PMID: 8807422

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