Biallelic PTRHD1 Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism.
Ghalia Al-KasbiAbeer Al-SaeghAhmed Al-QassabiTariq Al-JabryFahad ZadjaliSaid Al-YahyaeeAlmundher Al-MaawaliPublished in: Movement disorders clinical practice (2021)
We provide further evidence that PTRHD1 mutations are associated with autosomal-recessive childhood-onset intellectual disability associated with spasticity and parkinsonism.