346 results

... onset spasticity, ataxia, & seizures ± optic atrophy ± cerebellar atrophy ± retinitis pigmentosa Juvenile form more aggressive GTP cyclohydrolase 1-deficient ...

... the onset of other neurologic manifestations. Retinopathy (see Retinitis Pigmentosa ) may also play a less important role in ...

... ID = intellectual disability; MOI = mode of inheritance; RP = retinitis pigmentosa; SCAN1 = spinocerebellar ataxia with axonal neuropathy type 1 ...

... an SMAD4 pathogenic variant who also presented with retinitis pigmentosa, retinal detachment, joint laxity, and/or a marfanoid ...

... 2015 ]. Other findings in some individuals can include retinitis pigmentosa and seizures [ Tacke et al 2005 , Delaney et ...

... RP1 (OMIM 603937 ), associated with a form of retinitis pigmentosa , and DCDC2 (OMIM 605755 ), associated with dyslexia [ Reiner ...

... Features Designation / GeneReview / OMIM COQ2 2 AR SRNS, retinitis pigmentosa, SNHL, hypertrophic cardiomyopathy, ragged red muscle changes, seizures, ...

... liver and renal dysfunction, and severe seizures or retinitis pigmentosa as an isolated finding [ Willer et al 2012 , ...

... red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), or Leigh syndrome (LS). However, clinical variability ...

... red fibers; NARP = neurogenic weakness with ataxia and retinitis pigmentosa Nuclear DNA Mitochondrial Disorders Nuclear DNA (nDNA) mitochondrial ...