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INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 39; MRT39
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 39; MRT39
OMIM number: 615541
Comments closing date: 08/08/2025
TTI2-related intellectual developmental disorder with microcephaly is a rare condition caused by a
change in a gene. People with this condition may have learning difficulties, which can range from
mild to severe. They often show delays in development, especially in movement (like crawling or walking) and speaking. They may have a smaller head size than usual, either at birth or as they grow. Some children have low muscle tone (they might feel floppy as babies) and may also
have seizures. Speech can be very delayed, and some children may not speak at all. There may also be behavioural challenges, including signs that are similar to autism, such as difficulty with social interaction or repetitive behaviours.
Review date: 11 July 2027
