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Cerebellar Hypoplasia

Known as: Hypoplastic cerebellum, cerebellum hypoplasia, Small cerebellum 
Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental… 
National Institutes of Health

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ASPARAGINE SYNTHETASE DEFICIENCYCEREBELLOFACIODENTAL SYNDROMECONGENITAL DISORDER OF GLYCOSYLATION, TYPE IImCentral Nervous System

Broader (2)

Congenital neurologic anomaliesDevelopmental Disabilities

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Spondylolysis and isthmic spondylolisthesis: impact of vertebral hypoplasia on the use of the Meyerding classification.
BACKGROUND Spondylolysis and isthmic spondylolisthesis are common multifactorial disorders. The extent of slipping of the… 
Highly Cited
2010
Highly Cited
2010
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish
Warburg Micro Syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia… 
Review
2009
Review
2009
Morphological spectrum of prenatal cerebellar disruptions.
2004
2004
Frontonasal process-specific disruption of AP-2alpha results in postnatal midfacial hypoplasia, vascular anomalies, and nasal cavity defects.
Highly Cited
2002
Highly Cited
2002
Epistatic effect of genes from the dopamine and serotonin systems on the temperament traits of Novelty Seeking and Harm Avoidance
Epistatic effect of genes from the dopamine and serotonin systems on the temperament traits of Novelty Seeking and Harm Avoidance 
Review
2001
Review
2001
L1 cell adhesion molecule signal cascades: targets for ethanol developmental neurotoxicity.
Highly Cited
2000
Highly Cited
2000
Cerebellar and frontal lobe hypoplasia in fetuses with trisomy 21: usefulness as combined US markers.
PURPOSE To confirm that cerebellar hypoplasia is ultrasonographically recognizable in second-trimester fetuses with Down syndrome… 
1993
1993
A New 3C Syndrome: Cerebellar Hypoplasia, Carvernous Haemangioma and Coarctation of the Aorta
Two chldren were indentified with facial haemangioma, cerebellar hypoplasia and co‐arctation of the aorta; the second child… 
Highly Cited
1987
Highly Cited
1987
The pattern of cardiovascular malformation in the CHARGE association.
Congenital heart disease occurred in 64% of patients with the CHARGE (coloboma, heart disease, choanal atresia, retardation of… 
1975
1975
Cerebellar Hypoplasia in Werdnig‐Hoffmann Disease
The case of an infant with Werdnig‐Hoffmann disease, who died at the age of 41/2 days, is reported. At autopsy there was severe… 
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