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corpus callosum hypoplasia
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
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LNPK
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
endoplasmic reticulum tubular network maintenance
Lunapark domain
positive regulation of endoplasmic reticulum tubular network organization
regulation of endoplasmic reticulum tubular network organization
endoplasmic reticulum tubular network membrane
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Curated Studies
Most Correlated Studies
OMIM - Congenital disorder
OMIM - Multisystem Complex Disorders
OMIM - Developmental disorders
OMIM - Brain CNS Motor Neuron and other Neuropathy Disorders
OMIM - Neurodevelopmental and Related Disorders
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Literature
Most Relevant Literature
Hypoplasia of the Corpus Callosum: A Single Center Experience and a Concise Literature Review.
Holoprosencephalia, hypoplasia of corpus callosum and cerebral heterotopia in a male belted Galloway…
A Case of Ophthalmoplegia, Hypotonia, and Developmental Delay in the Setting of Corpus Callosum Hypo…
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus call…
A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by…
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Clinical Trials
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Brain Development Research Program
Prenatal Treatment of Congenital Cytomegalovirus Infection With Letermovir Versus Valaciclovir
Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
Study of Selected X-Linked Disorders: Aicardi Syndrome
Human Epilepsy Genetics--Neuronal Migration Disorders Study
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