Cerebellar Hypoplasia
What's New
Last Posted: Mar 09, 2023
- Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Hayashi Shin, et al. PloS one 2017 0 (8) e0181791 - A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia.
Ciaccio Claudia, et al. Neuropediatrics 2021 0 (6) 484-488 - Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience.
Bilge Serap, et al. Italian journal of pediatrics 2022 0 (1) 169 - Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Sakamoto Masamune et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 10 - Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
Rinaldi Berardo, et al. Neurogenetics 2021 11 - Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.
Arslan Elif Acar et al. Brain & development 2019 Sep - Right-sided aortic arch in the age of microarray.
O'Mahony Edward F, et al. Prenatal diagnosis 2017 2 - Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Sajan Samin A, et al. PLoS genetics 2013 0 (10) e1003823 - Cerebellar hypoplasia
From NCATS Genetic and Rare Diseases Information Center - Cerebellar hypoplasia tapetoretinal degeneration
From NCATS Genetic and Rare Diseases Information Center
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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