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Infantile onset
- Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic ... upper limbs and other areas of the body. Infantile-onset ascending hereditary spastic paralysis starts as a pure ...
- Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop ... hypotonia, ataxia, hypacusis, and athetosis Genetic Testing Registry: Infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia Mitochondrial DNA ...
- ... the condition. Amish infantile epilepsy syndrome Epilepsy syndrome, infantile-onset symptomatic Ganglioside GM3 synthase deficiency Infantile-onset symptomatic ...
- ... disorder in their family. SAVI STING-associated vasculopathy, infantile onset Genetic Testing Registry: STING-associated vasculopathy with onset ... Rare Disorders (NORD) ClinicalTrials.gov STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI PubMed Burdette DL, Monroe KM, Sotelo-Troha ...
- ... they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.The classic form of infantile-onset Pompe disease begins within a few months of ...
- ... infantile SMA XL-SMA XLSMA Genetic Testing Registry: Infantile-onset X-linked spinal muscular atrophy Infantile-onset X-linked spinal muscular atrophy National Organization for ...
- ... Organization for Rare Disorders (NORD) PARKINSONISM-DYSTONIA 1, INFANTILE-ONSET; PKDYS1 PubMed Blackstone C. Infantile parkinsonism-dystonia due to dopamine transporter gene mutations: ...
- ... OR ADULT ONSET; CDAA CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET; CDNI PubMed Faghfoury H, Baruteau J, de Baulny ...
- ... Lerksuthirat T, Suktitipat B, Jinawath N, Wattanasirichaigoon D. Infantile onset Sandhoff disease: clinical manifestation and a novel common ...
- ... axonal neuropathies and neuronopathies of pre-natal and infantile onset. J Peripher Nerv Syst. 2012 Sep;17(3): ...