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Neurological
- ... Affected individuals may also have a variety of neurological problems such as seizures and intellectual disability, ranging ... Some people with beta-ureidopropionase deficiency have no neurological symptoms, and the disorder can only be diagnosed ...
- ... of brain dysfunction (encephalopathy) and a variety of neurological problems that gradually get worse. SLC19A3 gene mutations ... decreased absorption of the vitamin and leading to neurological dysfunction. Using medical imaging, abnormalities can be seen ...
- ... sensitivity, xeroderma pigmentosum is sometimes associated with progressive neurological abnormalities. In affected individuals with the Phe99Ser variant, ...
- ... bones.Mutations in the TRPV4 gene also cause neurological disorders. This spectrum of related conditions includes Charcot- ... TRPV4 gene mutations that cause these skeletal and neurological disorders change single amino acids in the TRPV4 ...
- ... interneurons, which likely underlies infantile spasms and other neurological problems characteristic of DEE1. More About This Health ... been identified in people with Partington syndrome, a neurological disorder that causes intellectual disability and a group ...
- ... a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. Individuals with this form ... signs and symptoms of methylmalonic acidemia with homocystinuria. Neurological and developmental problems are especially severe in individuals ...
- ... of lactic acid in the tissues (lactic acidosis), neurological problems, and liver disease.Most DLD mutations change ... particularly in the nervous system, and contributes to neurological problems in people with dihydrolipoamide dehydrogenase deficiency. A ...
- ... gene variants, it is often associated with progressive neurological abnormalities. These nervous system problems include hearing loss, ... function, difficulty swallowing and talking, and seizures. The neurological abnormalities are thought to result from a buildup ...
- ... characterized by migraine headaches with a pattern of neurological symptoms known as aura. In familial hemiplegic migraine, ... PRRT2 gene have been found to cause another neurological disorder called familial paroxysmal kinesigenic dyskinesia. This condition ...
- ... gene variants, it is often associated with progressive neurological abnormalities. These nervous system problems include hearing loss, ... function, difficulty swallowing and talking, and seizures. The neurological abnormalities are thought to result from a buildup ...
