Sources to Learn More: What is a genetic variant and how do variants occur? (MedlinePlus) Definition of Variant (NCI) Mutation definition, illustration, and related terms (NHGRI)Ī genetic disease is a disease caused by a change in part of a person's DNA. A pathogenic variant may also be called a mutation or a disease-causing variant. A pathogenic variant does cause health problems or disease because the change does affect how the gene works. A benign variant does not cause health problems or disease because the change does not affect how the gene works.
Webbed neck code#
Sources to Learn More: What is a genetic variant and how do variants occur? (MedlinePlus) Definition of Variant (NCI) Mutation definition, illustration, and related terms (NHGRI) A genetic variant is a change in a gene's code or DNA sequence that causes the gene to be different than found in most people. Variants that occur in the egg or sperm (germline mutations) can be passed on to offspring, while variants that occur in other body cells (somatic mutations) are not passed on. Variants can result from DNA copying mistakes made during cell division or certain environmental exposures. Sources to Learn More: What is a gene? (MedlinePlus) What's a Gene? (NHGRI) What are proteins and what do they do? (MedlinePlus)Ī genetic variant is a change in a gene's code or DNA sequence that causes the gene to be different than found in most people. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. Sources to Learn More: What is a gene? (MedlinePlus) What's a Gene? (NHGRI) What are proteins and what do they do? (MedlinePlus) Genes are part of our DNA, the basic genetic material found in each of our body's cells. Others make RNA molecules that are involved in chemical reactions in the body.
Some genes can turn other genes on or off. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes serve as the instructions to make proteins. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins.Įach gene performs a different job in our cells. Genes are part of our DNA, the basic genetic material found in each of our body's cells.
Webbed neck skin#
Abnormal eyelash morphology Abnormal heart valve morphology Abnormality of cardiovascular system morphology Abnormality of the eye Abnormality of vision Anteverted nares Aplasia/Hypoplasia of the eyebrow Atrial septal defect Brittle hair Coarse facial features Dry skin Excessive wrinkled skin Failure to thrive in infancy Feeding difficulties in infancy Fine hair Full cheeks Global developmental delay Hypotonia Intellectual disability Long face Long palpebral fissure Neurological speech impairment Palmoplantar keratoderma Pulmonic stenosis Short stature Thickened helices Underdeveloped supraorbital ridges Abnormality of the ulna Biparietal narrowing Cavernous hemangioma Cryptorchidism Deep palmar crease Depressed nasal bridge Downslanted palpebral fissures Dystrophic fingernails Epicanthus Frontal bossing Generalized hyperpigmentation High forehead High palate Hyperextensible skin Hyperkeratosis Hypertelorism Hypoplasia of the zygomatic bone Ichthyosis Long philtrum Low posterior hairline Low-set, posteriorly rotated ears Macrocephaly Macrotia Multiple cafe-au-lait spots Multiple lentigines Myopia Nystagmus Pectus excavatum Premature birth Ptosis Scoliosis Short neck Short nose Slow-growing hair Sparse hair Sparse or absent eyelashes Strabismus Webbed neck Abnormality of the gastrointestinal tract Cerebral cortical atrophy Cubitus valgus Dysarthria Functional abnormality of the gastrointestinal tract Genu valgum Hydrocephalus Hydronephrosis Hypertrophic cardiomyopathy Optic atrophy Redundant skin Submucous cleft hard palate
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