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210 Possible Causes for 3rd-4th Toe Clinodactyly, Most Mutations Occur De Novo

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  • Progressive Myoclonic Epilepsy Type 7

    — Not enough data available about incidence and published cases. Panel Name, Specifity and genes Tested/covered Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies. By Athena Diagnostics Inc in United States. ALPL, ADSL, SLC25A19, LIAS, ABAT, GAMT, GATM, SUCLA2,[…][mendelian.co]

    Missing: 3rd-4th Toe Clinodactyly
  • Early Infantile Epileptic Encephalopathy Type 6

    Most mutation occur de novo, although some familial SCN1A mutations have been reported.[els.net] Mutations are randomly distributed across the SCN1A protein. Most mutations are de novo, but familial SCN1A mutations also occur.[ncbi.nlm.nih.gov] Most of the disease-causing mutations occur de novo, meaning that they are new and not passed on from the parents.[dravetsyndromenews.com]

    Missing: 3rd-4th Toe Clinodactyly
  • Autosomal Dominant Mental Retardation Type 5

    - 5th fingers; Short middle phalanx of the 5th finger; Fifth finger camptodactyly; Midphalangeal hypoplasia; Clinodactyly; [Feet]; Syndactyly of 3rd - 4th toes SKIN, NAILS[findzebra.com] ) SKELETAL: [Skull]; Skull hyperostosis; [Spine]; Vertebral hyperostosis; [Pelvis]; Hip dislocation; [Limbs]; Broad tubular bones; Cubitus valgus; [Hands]; Syndactyly of 4th[findzebra.com]

  • Familial Adenomatous Polyposis

    Most desmoid tumours in FAP patients occur intra-abdominally. Approximately 15-20% of the APC mutations are de novo mutations.[ncbi.nlm.nih.gov] novo mutations and germline mosaicism: Most of the APC germline mutations are inherited, but can also occur de novo in a patient with no family history of the disease, representing[dovepress.com] […] recent data suggest that especially gross alterations affecting the promoter of coding regions may have been underreported, accounting for up to 20% of FAP families. 19 – 21 De[dovepress.com]

    Missing: 3rd-4th Toe Clinodactyly
  • Familial Hypercholesterolemia

    FH caused by a de novo mutation is very rare, and therefore, documenting a detailed family history is very important.[knowledge.statpearls.com] Epidemiology Heterozygous FH (HeFH) is one of the most common genetic disorders, occurring in approximately one in 200 to 500 people.[knowledge.statpearls.com]

    Missing: 3rd-4th Toe Clinodactyly
  • Ondine Syndrome

    Indeed, most of the mutations found so far in affected probands with unaffected parents occurred de novo ( 8, 10 – 12 ).[doi.org] In addition, whenever parents were available, we found that the polyalanine triplet expansion occurred de novo, supporting its role in the disease phenotype (see Supplementary[nature.com] Most mutant genotypes were different, suggesting that they derived from independent mutational events ( Fig. 1 c ).[nature.com]

    Missing: 3rd-4th Toe Clinodactyly
  • Epilepsy

    Among the case hot-zone insert we flag with red the hot-zone de novo mutations that occur in the epileptic encephalopathy gene list as described in the panel.[ncbi.nlm.nih.gov] A two-tailed Fisher’s exact was used to test whether the single most damaging de novo mutation found in cases preferentially lay in the “hot zone,” defined by a PolyPhen-2[ncbi.nlm.nih.gov]

    Missing: 3rd-4th Toe Clinodactyly
  • Sick Sinus Syndrome

    With CSS, most mutations appear to be the result of a new (de novo) mutation that occurs during early development in the embryo rather than inherited.[rarediseases.org]

    Missing: 3rd-4th Toe Clinodactyly
  • Benign Familial Infantile Epilepsy Type 4

    In some individuals, the disorder is due to a new (de novo) genetic mutation that occurs in the egg or sperm cell.[kcnq2cure.org] In most cases the disorder is transmitted as an autosomal dominant trait, but de novo mutations in KCNQ2 have been described as well.[molgen.ua.ac.be] […] patients become seizure-free by age 3 or 4 years Variable severity of seizures seen in family members and can be inherited Mutations may also occur de novo (not see in either[kcnq2cure.org]

    Missing: 3rd-4th Toe Clinodactyly
  • Duchenne Muscular Dystrophy

    mutation responsible can occur spontaneously before embryonic development (a de novo mutation), or it can be inherited from two parents who are carriers of a faulty gene ([en.wikipedia.org] Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome.[1][2] The[en.wikipedia.org]

    Missing: 3rd-4th Toe Clinodactyly

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