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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.
MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of intellectual disability in women. ARX: Aristaless related homeobox, is a protein associated with intellectual disability and lissencephaly. This gene is a homeobox-containing gene expressed ...
The middle finger is still used though, and it is considered more insulting. Another variation of the middle finger is used, where all the fingers but the middle one are spread wide while moving the hand back and forth in the axis the middle finger creates. In this gesture, the thumb sometimes touches the middle finger.
An estimated 30% of individuals with autism spectrum disorders engage in self-harm at some point, including eye-poking, skin-picking, hand-biting, and head-banging. [58] [59] According to a meta-analysis that did not distinguish between suicidal and non-suicidal acts, self-harm is common among those with schizophrenia and is a significant ...
Stereotypic movement disorder ( SMD) is a motor disorder with onset in childhood involving restrictive and/or repetitive, nonfunctional motor behavior (e.g., hand waving or head banging), that markedly interferes with normal activities or results in bodily injury. [1] To be classified as SMD, the behavior in question must not be due to the ...
The temporomandibular joints are one of the few synovial joints in the human body with an articular disc, another being the sternoclavicular joint. The disc divides each joint into two compartments, the lower and upper compartments. These two compartments are synovial cavities, which consist of an upper and a lower synovial cavity.
Sensory overload. Sensory overload occurs when one or more of the body's senses experiences over-stimulation from the environment. There are many environmental elements that affect an individual. Examples of these elements are urbanization, crowding, noise, mass media, and technology. [1] [2] [3] [4]
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal ...