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A genetic disorder is a health problem caused by one or more abnormalities in the genome.It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality.
The diseases may have more in common than generally recognized since similar risk factors are associated with multiple diseases. Families with close relatives are more likely to develop one of the disease than the common population. The risk may heighten anywhere between 12 and 50 percent depending on the relation of the family member. [4]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
CDK13-related disorder; Celebrity worship syndrome; Central centrifugal cicatricial alopecia; Central cord syndrome; Central nervous system syndrome; Central pain syndrome; Centurion syndrome; Cerebellar cognitive affective syndrome; Cerebellar stroke syndrome; Cerebellopontine angle syndrome; Cerebral salt-wasting syndrome; Cervicocranial syndrome
List of medical symptoms. Medical symptoms refer to the manifestations or indications of a disease or condition, perceived and complained about by the patient. [1] [2] Patients observe these symptoms and seek medical advice from healthcare professionals.
List of notifiable diseases - diseases that should be reported to public health services, e.g., hospitals. Lists of plant diseases; List of pollution-related diseases; List of skin conditions; List of diseases by year of discovery; Disorders. List of communication disorders; List of genetic disorders; List of heart disorders; List of liver ...
Other names: Schmidt's syndrome [1] HLA-DQ2 one of the human leukocyte antigens genotypes responsible for this condition: Specialty: Endocrinology Symptoms: Asplenia [1] Risk factors: Human leukocyte antigen (HLA-DQ2, HLA-DQ8 and HLA-DR4) [2] Diagnostic method: Ultrasound, MRI [3] Treatment: Thyroid-stimulating hormone [4]
Children with this disorder have incredibly brief (<100ms) myoclonic jerks followed by equally brief loss of muscle tone, sometimes resulting in dangerous falls. Some patients have much longer lasting seizures of this type. Many patients with this disorder also have absence seizures. This is believed to be a polygenic disorder.