The diagnosis of this disorder is usually established after genetic testing, for example exome sequencing. Although recurrent features are described in this disorder, these are not specific and cannot be used to diagnose the disorder.
Recurrent features are:
Central nervous system:
• Developmental delay
• Speech delay
• Motor delay
• Hypotonia (low muscle tone)
• Learning difficulties
• Intellectual disability – mild to moderate
• Autism spectrum disorder
• ADHD/ ADD
• Seizures
Congenital abnormalities:
• Congenital heart disease
• Single kidney, vesico-ureteral reflux, undescended testis
• Congenital abnormalities of the eyes
• Contractures
KDM2B