Create issue ticket

51 Possible Causes for Variable Expressivity of Each Feature

  • Neuropathy

    Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[ncbi.nlm.nih.gov] Diagnosis is based upon clinical features as well as the degree of both sensory and autonomic dysfunction.[ncbi.nlm.nih.gov]

  • Endometriosis

    […] of PCOS. [3] The genetic component appears to be inherited in an autosomal dominant fashion with high genetic penetrance but variable expressivity in females meaning that[pejoweb.com] each child has a 50% chance of inheriting the predisposing genetic variant(s) from a parent, and, if a daughter receives the variant(s), the daughter will have the disease[pejoweb.com] Such evidence includes the familial clustering of cases, greater concordance in monozygotic compared with dizygotic twins and heritability of endocrine and metabolic features[pejoweb.com]

  • Autonomic Neuropathy

    Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[ojrd.biomedcentral.com] Diagnosis is based upon clinical features as well as the degree of both sensory and autonomic dysfunction.[ojrd.biomedcentral.com]

  • Marfan Syndrome

    Marfan syndrome can affect many parts of the body, and each person is affected differently. This is called variable expression .[marfan.org] The prevalence is 1/20,000 and the disorder is inherited with variable expression.[encyclopedia.com] Special tests are often needed to detect these features. What does Marfan syndrome look like?[marfan.org]

  • Congenital Upper Palpebral Retraction

    EEC syndrome: Each of the three main features of ectrodactyly, ectodermal dysplasia and clefting syndrome shows a variable degree of expressivity.[oandplibrary.org]

  • Migraine Equivalent

    Initially, we analyzed the frequencies of each category of variables (frequency, intensity).[thejournalofheadacheandpain.biomedcentral.com] We used descriptive statistics expressed as means, SD and percentages to describe the basic features of our sample.[thejournalofheadacheandpain.biomedcentral.com]

  • Lens Dislocation

    Marfact #22: Marfan syndrome can affect many parts of the body, but has “variable expression,” so each person is affected differently, even in the same family.[tissuetales.com] While there are features that are frequently seen in many people with the disorder (such as tall, thin stature, disproportionately long arms and legs), not all people exhibit[tissuetales.com]

  • Autosomal Dominant Optic Atrophy

    When a person with ADOA plus has children, each child has a: 50% chance to have ADOA plus 50% chance not to have ADOA plus ADOA plus shows features called variable expressivity[rarediseases.info.nih.gov] […] and reduced penetrance. [3] [4] Variable expressivity means that people with the syndrome may have signs and symptoms that are different from each other, even among people[rarediseases.info.nih.gov]

  • Hereditary Sensory Neuropathy

    Each HSAN disorder is likely caused by genetic errors that affect specific aspects of small fiber neurodevelopment, which result in variable phenotypic expression. [3] HSAN[ijpd.in] Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[ojrd.com] […] present. [2] A classification of the hereditary sensory neuropathies into types HSAN I-V was made by Dyck (1993) based on age at onset, inheritance pattern, and several other features[ijpd.in]

  • Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

    Although some phenotypic overlap between the various types was observed, each type had its distinguishing features.[en.youscribe.com] All variants were reported to exhibit autosomal dominant inheritance with variable expression and incomplete penetrance.[en.youscribe.com]

Further symptoms