Genomic imbalances are an underlying cause of syndromic or non-syndromic developmental delay, mental retardation, autism spectrum disorder, dysmorphic features, birth defects or other congenital anomalies and numerous genetic syndromes.

Mutations are X-linked dominant and the majority are de novo.

Testing for CDKL5-Related Infantile Spasms should be considered in those with Atypical Rett Syndrome, MECP2-negative Rett Syndrome, X-Linked Infantile Spasms (ISSX, West syndrome, or the Hanefield variant), complex seizures disorders with mental retardation, X-linked Mental Retardation, and Autism Spectrum Disorder.

Approximately 10% of ALS cases are referred to as familial ALS (FALS), in which individuals have at least one affected family member. Amyotrophic Lateral Sclerosis is characterized by the degeneration and death of both the upper and lower motor neurons in the cerebral cortex, brainstem, and spinal cord. Of the eleven FALS types, five types of autosomal dominant ALS (AD-ALS) have been associated with mutations in single genes.