X-linked intellectual disability, Cantagrel type
ORPHA:85277· ICD-10 Q87.8
Definition
A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal