MYT1L-повязаний синдром затримки розвитку-інтелектуальної недостатності-ожиріння

Визначення(English summary)

A rare neurodevelopmental syndrome characterized by global developmental delay, intellectual disability of varying severity or learning difficulties (e.g. dysphasia, dyspraxia, dyscalculia, dysgraphia) and behavioral disorders (stereotypies, autism spectrum disorder, impulsiveness or intolerance to frustration, self or hetero aggression). Additional clinical features include weight disorders (overweight/obesity) and eating behaviour disorders (including hyperphagia, tachyphagia, obsessive food compulsions, epilepsy), non-specific magnetic resonance imaging (MRI) abnormalities, ophthalmologic abnormalities, sleep disorders and non-specific dysmorphism. Endocrine abnormalities are rarely associated.