Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
MONDO:0100155An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene, encoding the patatin like phospholipase domain containing 6 protein. RAPH syndrome is characterized by hypogonadism, cerebellar ataxia, retinal dystrophy, peripheral neuropathy, growth hormone deficiency, and cognitive impairment. Additional clinical features may include lower limb spasticity, trichomegaly, alopecia, and facial dismorphism. The term lumps Boucher-Neuhauser, Gordon Holmes, Laurence-Moon, and Oliver-McFarlene syndromes.
Also known as: RAPH syndrome
0 clinical trials for this condition and its sub-types, 0 tagged with Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Part of
We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.