ARX gene 2 Argentina 2 Article 2 Cohort Studies 2 DCX gene 2 DNA Copy Number Variations 2 FLNA gene 2 Female 2 Genotype 2 Germ-Line Mutation 2 Humans 2 Male 2 Malformations of Cortical Development, Group II 2 PAFAH1B1 gene 2 POMGNT1 gene 2 POMT1 gene 2 Phenotype 2 Sanger sequencing 2 X chromosome 2 Young Adult 2 acidosis 2 agyria 2 alanine 2 ambiguous genitalia 2 amino acid sequence 2 amino acid substitution 2 arginine 2 brain malformation 2 chromosome breakage 2 clinical article 2