In this study, we demonstrate that MBD5 is the only gene in common among all duplication cases and that overexpression of MBD5 is likely responsible for the core clinical features present in 2q23.1 microduplication syndrome. [ohsu.pure.elsevier.com]

• Almond-Shaped Eyes

  These may or may not include: a broad forehead a uni-brow thick and/or arched eyebrows eye abnormalities almond-shaped eyes a short up-turned nose other nasal abnormalities short philtrum (or space between the nose and upper lip) a thin tented upper-lip [2q23.org]

• Short Attention Span

  attention span self-injurious behavior repetitive behavior aggression autistic-like symptoms* have a slow growth curve develop short stature as they age microcephaly, or small head circumference have difficulty walking a broad-based gait Children may [2q23.org]

• Delayed Speech and Language Development

  speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language [rarediseases.info.nih.gov]

• Broad-Based Gait

  […] problems sleep disturbances short attention span self-injurious behavior repetitive behavior aggression autistic-like symptoms* have a slow growth curve develop short stature as they age microcephaly, or small head circumference have difficulty walking a broad-based [2q23.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Copy number variations associated with abnormal gene dosage have an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID) and autism. [ohsu.pure.elsevier.com]

[…] of 2q23.1 microdeletion syndrome and that this epigenetic regulator significantly contributes to ASD risk, warranting further consideration in research and clinical diagnostic screening and highlighting the importance of chromatin remodeling in the etiology [mendeley.com]

Deletion CpG Clusters Epigenesis, Genetic Related Feeds Autism: Treatment Targets The absence of effective treatments for autism are due to the high clinical and genetic heterogeneity between affected individuals, restricted knowledge of the underlying pathophysiological [meta.org]

These random events cannot be prevented and could happen to any pregnancy. [2q23.org]