Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
ORPHA:529965· ICD-10 Q87.0
Definition
A rare, syndromic intellectual disability characterized by developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy