WebPNPLA6-related disorders feature combinations of overlapping signs and symptoms, including ataxia, muscle stiffness (spasticity), abnormally fast (brisk) reflexes, reduced … WebFeb 24, 2014 · The form of motor neuron disease designated spastic paraplegia-39 (SPG39) by Rainier et al. (2008) is an autosomal recessive progressive spastic paraplegia associated with distal upper and lower extremity wasting. For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800.
fsh deficiency - National Library of Medicine Search Results
WebHealth Conditions Related to Genetic Changes Boucher-Neuhäuser syndrome More than a dozen mutations in the PNPLA6 gene have been found to cause Boucher-Neuhäuser syndrome, a disorder characterized by coordination and balance problems (ataxia), vision impairment, and delayed puberty. The mutations are thought to impair the WebThe Bardet-Biedl syndrome represents an autosomal-recessive disorder characterized by retinal pigmentary dystrophy (retinitis pigmentosa), mental retardation, central obesity, polydactyly, a variety of renal abnormalities, and hypogonadotropic hypogonadism. 122 Those with the Laurence-Moon syndrome also exhibit retinal pigmentary dystrophy, … blackwoods menu proctor
PNPLA6‐Related Disorder with Levodopa‐Responsive Parkinsonism
WebThe National Library of Medicine (NLM), on the NIH campus in Bethesda, Maryland, is the world's largest biomedical library and the developer of electronic information services that delivers data to millions of scientists, health professionals and members of the public around the globe, every day. WebJan 1, 2024 · PNPLA6 -related disorders have variable clinical phenotypes and span a phenotypic continuum characterized by variable combinations of cerebellar ataxia, chorioretinal dystrophy, hypogonadotropic hypogonadism, peripheral neuropathy, hair anomalies, short stature, and intellectual disability. WebNM_001166114.2(PNPLA6):c.2386G>T (p.Ala796Ser) AND Hereditary spastic paraplegia 39. Clinical significance: Uncertain significance (Last evaluated: Aug 23, 2024) blackwoods minsup