But concretely, what is MYT1L ?
-
A gene that is expressed mainly antenatally and almost exclusively in the central nervous system .
​
-
A gene involved in the process of neurogenesis (maturation of neurons in particular).
​
-
A syndrome manifested by global developmental delay with heterogeneous profiles . Not all patients have all the impacts of the syndrome, and the severity of these impacts varies from a patient to another.
​
-
A non-degenerative pathology.
​
​
â–¼ DESCRIPTION from IMPACTS from syndrome MYT1L â–¼
Predominant delay
on language
Expressive disorder
The median of the first sentences is around 5 years old
Intellectual disability
or
Learning Disabilities
-
70% of intellectual disability to varying degrees
​​
-
30% of Learning Disorders (dyslexia, dysphasia, dyspraxia, etc.)
Behavioral Disorders
almost 100%
alone or in association
-
55% stereotypies
​
-
53% impulsiveness, frustration intolerance
​
-
45% auto or hetero aggression
​
-
43% with autism spectrum disorder
​​
-
38% with attention deficit disorder with or without hyperactivity
Psychomotor development disorder
-
Median age of acquisition of walking at 22 months
-
Coordination disorder, motor instability, impact on fine motor skills
-
Hypotonia
Epilepsy, brain MRI abnormalities
-
28% of brain MRI anomalies
-
23% epilepsy
Other Observed Disorders
-
33% sleep disorder
​​
-
30% ophthalmic disorders
​​
-
fatigue
Non-specific dysmorphia 67%
Patients do not necessarily present distinctive morphological signs linked to this disease.
The portrait was created using Face2gene research software.
