A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing

MeSH terms

• Adenylosuccinate Lyase / deficiency*
• Adenylosuccinate Lyase / genetics*
• Agenesis of Corpus Callosum / diagnostic imaging
• Agenesis of Corpus Callosum / physiopathology*
• Autistic Disorder / diagnosis
• Autistic Disorder / genetics*
• Autistic Disorder / physiopathology
• Cerebellar Vermis / abnormalities
• Cerebellar Vermis / diagnostic imaging
• Cerebral Cortex / abnormalities
• Cerebral Cortex / diagnostic imaging
• Developmental Disabilities / physiopathology*
• Electroencephalography
• Epilepsy / physiopathology*
• Exome Sequencing
• Heterozygote
• Humans
• Infant, Newborn
• Lissencephaly / diagnostic imaging
• Lissencephaly / physiopathology*
• Magnetic Resonance Imaging
• Male
• Muscle Hypotonia / physiopathology*
• Mutation
• Organ Size
• Purine-Pyrimidine Metabolism, Inborn Errors / diagnosis
• Purine-Pyrimidine Metabolism, Inborn Errors / genetics*
• Purine-Pyrimidine Metabolism, Inborn Errors / physiopathology
• Respiratory Distress Syndrome, Newborn / physiopathology*