ITSN1-related disorder
OMIM number: no OMIM number
Comments closing date: 08/05/2026
ITSN1-related disorder is an ultra-rare condition characterised by various problems including global developmental delay, learning difficulties (typically described to be within the mild to moderate range), behaviour problems (including ADHD, aggressive behaviour, anxiety and stereotypies), low muscle tone (hypotonia), short stature, hypermobility and eye problems (including cataract, squint, refractive errors and astigmatism).
