P1916
P2293
P5166
Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanismsAn autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.A novel GPR56 mutation causes bilateral frontoparietal polymicrogyriaBilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.Biochemical characterization of genetic mutations of GPR56 in patients with bilateral frontoparietal polymicrogyria (BFPP).Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.Bilateral Frontoparietal Polymicrogyria Linked to Chromosome 16.Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria.Bilateral frontoparietal polymicrogyria.Three patients with severe bilateral frontoparietal polymicrogyria.Bilateral frontoparietal polymicrogyria and epilepsy.Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene in Pakistani Intellectual Disability FamiliesBilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene
P921
name
Bilateral frontoparietal polymicrogyria
@en
polymicrogyrie bilatérale frontopariétale
@fr
type
label
Bilateral frontoparietal polymicrogyria
@en
polymicrogyrie bilatérale frontopariétale
@fr
altLabel
BFPP
@en
Cerebellar Ataxia With Neuronal Migration Defect
@en
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
@en
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP
@en
prefLabel
Bilateral frontoparietal polymicrogyria
@en
polymicrogyrie bilatérale frontopariétale
@fr
P31
P6532
P486
P6366
P1748
P2293
P279
P2892
P4229
P4317
P486
P492
P5270
MONDO:0011738
P6366
2781075451
2908786832