The Riley-Day syndrome, Familial dysautonomia or type III hereditary sensory autonomic neuropathy is an autonomic sensory neuropathy of hereditary ori...
The Wolman's disease It is a rare genetic condition related to an incorrect breakdown and use of fats and cholesterol, that is, an altered lipid metab...
The Pierre Robin syndrome it is a disorder of genetic origin classified within craniofacial syndromes or pathologies. Clinically, it is characterized ...
The Wernicke's aphasia, Sensory aphasia or receptive aphasia is a speech disorder in which the individual will have problems understanding the languag...
The dysexecutive syndrome It is a set of symptoms -communication problems, communication, cognitive and behavioral deficits, changes in sleep patterns...
The Ohtahara syndrome, Also known as early childhood epileptic encephalopathy, it is a type of epilepsy characterized by spasms, seizures resistant to...
The brain microangiopathy It is a hereditary disease that produces multiple strokes, as it affects blood flow. It is also called CADASIL for its acron...
The Canavan disease It is a rare genetic disease that occurs because nerve cells in the brain are damaged and unable to communicate with each other. T...
The phakomatosis is a group of neurocutaneous disorders of genetic origin, rare in the general population. At the clinical level, they are characteriz...