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megalencephaly
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Genetic Markers
Most Correlated Genes
Most Correlated SNPs
STRADA
PIK3R2
CCND2
AKT3
PIK3CA
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Pathway Enrichment
Most Correlated Biogroups
REACTOME_PI3K_CASCADE
REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE
REACTOME_SIGNALING_BY_INSULIN_RECEPTOR
protein kinase regulator activity
kinase regulator activity
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Curated Studies
Most Correlated Studies
OMIM - Polyhydramnios, megalencephaly, and symptomatic epilepsy
OMIM - Disorder of brain
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Literature
Most Relevant Literature
Macrocephaly as a clinical indicator of genetic subtypes in autism.
12q14 microdeletion syndrome and short stature with or without relative macrocephaly.
Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay…
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epi…
Leukoencephalopathies associated with macrocephaly.
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Clinical Trials
Most Relevant Clinical Trials
Assessment of the Efficacy and Safety of Alpelisib (BYL719) in Pediatric and Adult Patients With Meg…
National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)
Health-related Quality of Life, Symptom Severity, and Pain Among Patients With PIK3CA-related Overgr…
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
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