The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family

Keyphrases

• Autism 100%
• Intellectual Disability 100%
• Saudi Family 100%
• Consanguineous 100%
• Alkylglycerol Monooxygenase 100%
• Syndromic Form 100%
• Primary Microcephaly 100%
• Whole Exome Sequencing 66%
• Microcephaly 66%
• Saudi Arabia 33%
• Exon 10 33%
• Homozygous Deletion 33%
• Sequence Validation 33%
• Exome 33%
• Exome Aggregation Consortium 33%
• Common Region 33%
• Autosomal Recessive Primary Microcephaly 33%
• Microarray Genotyping 33%
• Deletion mutation 33%
• Affected Siblings 33%
• Consanguineous Family 33%
• SNP Array 33%
• Familial Cases 33%
• Genome-wide Single nucleotide Polymorphisms 33%
• Sanger Sequencing 33%
• Heterogeneous Groups 33%
• Short Stature 33%
• Developmental Delay 33%
• Neurodevelopmental Disorders 33%
• Regions of Homozygosity 33%
• Population Screening 33%
• Head Circumference 33%
• Sequencing Data Analysis 33%
• Genetic Heterogeneity 33%

Biochemistry, Genetics and Molecular Biology

• Intellectual Disability 100%
• Unspecific Monooxygenase 100%
• Exome 66%
• Exome Sequencing 66%
• Genotyping 33%
• Exon 33%
• Single-Nucleotide Polymorphism 33%
• Homozygosity 33%
• Autosomal Recessive Inheritance 33%
• Body Height 33%
• Genetic Heterogeneity 33%
• Microarrays 33%
• Mass Screening 33%