Allan-Herndon-Dudley syndrome
ORPHA:59· ICD-10 G31.8
Definition
A rare X-linked syndromic intellectual disability with neuromuscular involvement characterized by a varying degree of neurodevelopmental delay including hypotonia, hypokinesia, dystonia and spasticity, and a wide range of clinical sequelae secondary to chronic peripheral thyrotoxicosis.
- Prevalence
- Unknown
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal