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Last Updated: 10/31/2025
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Found 93 publications
Total cerebellar agenesis: A case report of a very rare condition.
Journal: Radiology case reports
Published: June 27, 2024
Cerebellar Agenesis: A Rare Cause of Seizure Disorder in a Young Boy.
Journal: Neurology India
Published: January 04, 2022
Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study.
Journal: International journal of environmental research and public health
Published: November 11, 2021
Two Curious Cases of Complete Cerebellar Agenesis.
Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Published: August 20, 2021
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Journal: American journal of human genetics
Published: December 23, 2020
Unilateral agenesis of internal carotid artery associated with superior cerebellar artery aneurysm and anomalous origin of ophthalmic artery arising from the ipsilateral posterior communicating artery.
Journal: Radiology case reports
Published: August 14, 2020
Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes.
Journal: Frontiers in pediatrics
Published: December 07, 2018
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.
Journal: European journal of medical genetics
Published: September 28, 2017
Last Updated: 10/31/2025