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Results 1 - 10 of 22 for Infantile onset
  1. GARS1 gene 
    ... been found to cause a condition called GARS1 infantile-onset spinal muscular atrophy (also known as infantile spinal ... eating, speaking, and breathing in people with GARS1 infantile-onset spinal muscular atrophy. Similar to distal hereditary motor ...
    https://medlineplus.gov/genetics/gene/gars1 - Genetics
  2. ALS2 gene 
    ... ALS2 gene mutations have been found to cause infantile-onset ascending hereditary spastic paralysis. This disorder is characterized ... is unclear exactly how ALS2 gene mutations cause infantile-onset ascending hereditary spastic paralysis. Research suggests that a ...
    https://medlineplus.gov/genetics/gene/als2 - Genetics
  3. TWNK gene 
    ... the TWNK gene have been found to cause infantile-onset spinocerebellar ataxia (IOSCA). The most common mutation replaces ... Sajantila A, Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  4. SLC25A13 gene 
    ... CITRIN), MEMBER 13; SLC25A13 CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET; CDNI NCBI Gene ClinVar Kobayashi K, Bang Lu ...
    https://medlineplus.gov/genetics/gene/slc25a13 - Genetics
  5. ST3GAL5 gene 
    ... Dwek RA, Butters TD, Platt FM, Crosby AH. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss- ...
    https://medlineplus.gov/genetics/gene/st3gal5 - Genetics
  6. HEXB gene 
    ... Lerksuthirat T, Suktitipat B, Jinawath N, Wattanasirichaigoon D. Infantile onset Sandhoff disease: clinical manifestation and a novel common ...
    https://medlineplus.gov/genetics/gene/hexb - Genetics
  7. CLN8 gene 
    ... Bassi MT. A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 ...
    https://medlineplus.gov/genetics/gene/cln8 - Genetics
  8. HEXA gene 
    ... of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. ...
    https://medlineplus.gov/genetics/gene/hexa - Genetics
  9. PPT1 gene 
    ... analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. Hum Mol Genet. 2001 Jun 15;10(13):1431-9. doi: 10.1093/hmg/10.13.1431. Citation on PubMed ... neuronal ceroid lipofuscinosis (infantile CLN1 disease). Biochim Biophys ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  10. FHL1 gene 
    ... REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A REDUCING BODY MYOPATHY, X-LINKED 1B, WITH ...
    https://medlineplus.gov/genetics/gene/fhl1 - Genetics
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