Angelman syndrome-like

MedGen UID:: 472054
•Concept ID:: CN128785
•: Disease or Syndrome

Gene (location):

Gene(s) directly associated with
this condition or phenotype.

CDKL5 (Xp22.13)

Recent clinical studies

Diagnosis

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.

Aguilera C, Gabau E, Ramirez-Mallafré A, Brun-Gasca C, Dominguez-Carral J, Delgadillo V, Laurie S, Derdak S, Padilla N, de la Cruz X, Capdevila N, Spataro N, Baena N, Guitart M, Ruiz A
PLoS One 2021;16(10):e0258766. Epub 2021 Oct 15 doi: 10.1371/journal.pone.0258766. PMID: 34653234 Free PMC Article

Rett syndrome: model of neurodevelopmental disorders.

Percy AK, Lane JB
J Child Neurol 2005 Sep;20(9):718-21. doi: 10.1177/08830738050200090301. PMID: 16225824

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Therapy

Rett syndrome: model of neurodevelopmental disorders.

Percy AK, Lane JB
J Child Neurol 2005 Sep;20(9):718-21. doi: 10.1177/08830738050200090301. PMID: 16225824

See all (1)

Clinical prediction guides

Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.

Roberts SE, Dennis NR, Browne CE, Willatt L, Woods G, Cross I, Jacobs PA, Thomas S
Hum Genet 2002 Mar;110(3):227-34. Epub 2002 Feb 2 doi: 10.1007/s00439-002-0678-6. PMID: 11935334

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Angelman syndrome-like

Recent clinical studies

Diagnosis

Therapy

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

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