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Results 1 - 10 of 954 for Parental
  1. Pseudoxanthoma elasticum 
    ... in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition ... few cases, an affected individual has one affected parent and one parent without the signs and symptoms ...
    https://medlineplus.gov/genetics/condition/pseudoxanthoma-elasticum - Genetics
  2. Beckwith-Wiedemann syndrome 
    ... inherit one copy of this chromosome from each parent. For most genes on chromosome 11, both copies ... mother (the maternally inherited copy) is expressed. These parent-specific differences in gene expression are caused by ...
    https://medlineplus.gov/.../condition/beckwith-wiedemann-syndrome - Genetics
  3. Genetic epilepsy with febrile seizures plus 
    ... affected person inherits the mutation from one affected parent. Other cases result from new (de novo) mutations ... mutations, although it can be inherited from a parent who has a milder form of GEFS+. Other ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  4. Familial Mediterranean fever 
    ... MEFV gene in each cell have variants. The parents of an individual with an autosomal recessive condition ... individuals often inherit the variant from one affected parent.However, another mechanism is believed to account for ...
    https://medlineplus.gov/.../condition/familial-mediterranean-fever - Genetics
  5. 1q21.1 microdeletion 
    ... 1 microdeletion inherit the chromosomal change from a parent. In general, parents who carry a 1q21.1 microdeletion have milder ... the same size. About one-quarter of these parents have no associated features.A 1q21.1 microdeletion ...
    https://medlineplus.gov/genetics/condition/1q211-microdeletion - Genetics
  6. Central precocious puberty 
    ... of the gene (one copy inherited from each parent) are active in all cells. However, the activity of the MKRN3 gene depends on which parent it was inherited from. Only the copy inherited ...
    https://medlineplus.gov/.../condition/central-precocious-puberty - Genetics
  7. Familial hypercholesterolemia 
    ... altered copy of the gene from an affected parent and one normal copy of the gene from the other parent.Rarely, a person with familial hypercholesterolemia has a ...
    https://medlineplus.gov/.../condition/familial-hypercholesterolemia - Genetics
  8. 9q22.3 microdeletion 
    ... 3 microdeletion most often occurs in people whose parents do not carry the chromosomal change. In these ... of reproductive cells (eggs or sperm) in a parent or in early embryonic development. De novo chromosomal ...
    https://medlineplus.gov/genetics/condition/9q223-microdeletion - Genetics
  9. Mandibulofacial dysostosis with microcephaly 
    ... an affected person inherits the mutation from a parent. The parent may be mildly affected or may be unaffected. Sometimes the parent has the gene mutation only in some or ...
    https://medlineplus.gov/...dibulofacial-dysostosis-with-microcephaly - Genetics
  10. Congenital central hypoventilation syndrome 
    ... affected person inherits the mutation from one affected parent. The number of such cases has been increasing ... individuals inherit the altered gene from an unaffected parent who has a PHOX2B gene mutation only in ...
    https://medlineplus.gov/...ngenital-central-hypoventilation-syndrome - Genetics
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