Pontocerebellar Hypoplasia
What's New
Last Posted: Mar 14, 2024
- Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Daniz Kooshavar et al. Brain Commun 2024 6(2) fcae056 - Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
Sakamoto Masamune et al. Journal of human genetics 2020 Oct - 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 - Targeted carrier screening for four recessive disorders: High detection rate within a founder population.
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
From NCATS Genetic and Rare Diseases Information Center - Microcephaly pontocerebellar hypoplasia dyskinesia
From NCATS Genetic and Rare Diseases Information Center - Pontocerebellar hypoplasia
From NCATS Genetic and Rare Diseases Information Center - Pontocerebellar hypoplasia type 1
From NCATS Genetic and Rare Diseases Information Center - Pontocerebellar hypoplasia type 2
From NCATS Genetic and Rare Diseases Information Center - Pontocerebellar hypoplasia type 3
From NCATS Genetic and Rare Diseases Information Center
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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 Public Health Genomics Branch 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, 2024
- Content source: