Rare syndromes

autoimmune disease that causes the immune system to attack part of the peripheral nervous system

chromosomal variation where a person is born with a 45X chromosome pattern rather than the typical 46XX

neurodevelopmental disorder caused by a deletion of around 27 genes in chromosome 7, characterized by a broad forehead, underdeveloped chin, short nose, full cheeks, challenges with visual tasks, increased empathy and decreased aggression

human disease

genetic condition in humans

human medical condition

genetic condition in which a male has an extra Y chromosome

heart conduction disease characterized by abnormal ECG findings

symptoms caused by an excess of serotonin in the central nervous system

rare neurologic disorder characterized by progressive rigidity and stiffness in truncal muscles, spasms, postural deformities, chronic pain, impaired mobility, and lumbar hyperlordosis

hypersensitivity reaction type II disease that is characterized by glomerulonephritis located in kidney and hemorrhaging located in lung

neuropsychiatric disorder

congenital syndrome characterized by additional electrical pathways causing electrical conduction problems in the heart, leading to sporadic episodes of tachycardia and other symptoms.

skin disease

monogenic disease characterized by glomerulonephritis, endstage kidney disease, and hearing loss

blood-clotting disorder

human disease characterized by an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels

recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior

nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers

rare disease

congenital disorder of nervous system

Human disease

sex chromosome aneuploidy where a female has three additional X chromosomes

syndrome characterized by a combination of hearing loss and visual impairment

fetal heart defect

epilepsy characterized by frequent febrile seizures and with onset before 1 year

rare genetic syndrome

medical condition in which intoxicating quantities of ethanol are produced within the digestive system

mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase

prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain

rare disease

rare but severe childhood-onset epilepsy

combined presence of Wernicke's encephalopathy (WE) and Korsakoff's syndrome

Congenital disorder of the skull and face

congenital disorder of digestive system

congenital disorder of nervous system

congenital disorder of digestive system

neurological and skin disorder associated with port-wine stains of the face, glaucoma, seizures, intellectual disability, and cerebral malformations

Human disease

bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT)

rare genetic disorder with short strature and predisposition to cancer

syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations

Human disease

Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A–T affects many parts of the body: It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination. It weakens the immune system, causing a predisposition to infection. It prevents the repair of broken DNA, increasing the risk of cancer.

Human disease

syndrome resulting from bilateral lesions of the medial temporal lobe

rare, autosomal recessive, benign disorder that causes an isolated increase of conjugated bilirubin in the serum

disease

Lissencephaly (, meaning 'smooth brain') is a set of rare brain disorders whereby the whole or parts of the surface of the brain are smooth. It is caused by defective neuronal migration during the 12th to 24th weeks of gestation, resulting in a lack of development of brain folds (gyri) and grooves (sulci). It is a form of cephalic disorder. Terms such as agyria (no gyri) and pachygyria (broad gyri) are used to describe the appearance of the surface of the brain.

chromosome abnormality with a distinct craniofacial phenotype and intellectual disability

acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull

congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration

ciliopathic human genetic disorder that produces many effects and affects many body systems

rare genetic disorder affecting collagen

human disease

spontaneous occuring or inherited mitochondrial myopathy with a typical onset before 20 years of age

nervous system disease that results from damage located in left parietal lobe, has symptom agraphia, has symptom acalculia, has symptom finger agnosia

growth disorder

rare disease

physical disorder that has material basis in abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra