Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 8 of 8 for Cerebral cortical atrophy
  1. FGFR3 gene 
    ... the brain (corpus callosum), and a loss of brain cells (cortical atrophy). It is thought that the neurological problems occur because the somatic variant affects brain cells in addition to cells in the skin. ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  2. Pyruvate dehydrogenase deficiency 
    ... halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  3. Spastic paraplegia type 15 
    ... over time. Additionally, there is often a loss (atrophy) of nerve cells in several parts of the brain, including the cerebral cortex, which controls thinking and emotions, and the cerebellum, ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-15 - Genetics
  4. Megalencephalic leukoencephalopathy with subcortical cysts 
    ... decreases and the myelin begins to waste away (atrophy). Individuals affected with this condition may develop cysts in the brain; because these cysts form below an area of the brain called the cerebral cortex, they are called subcortical cysts. These cysts can ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  5. Asparagine synthetase deficiency 
    ... ASNS deficiency ASNSD Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Disorder of asparagine metabolism Genetic Testing Registry: ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  6. RAB18 deficiency 
    ... microphthalmia, and small pupils. They have milder optic atrophy and cortical visual impairment than people with Warburg micro syndrome. ...
    https://medlineplus.gov/genetics/condition/rab18-deficiency - Genetics
  7. STXBP1 encephalopathy 
    ... muscle stiffness (spasticity). In some cases, areas of brain tissue loss (atrophy) have been found on medical imaging. The prevalence ... abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development. Acta Neuropathol Commun. 2017 Nov 30;5( ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  8. Fukuyama congenital muscular dystrophy 
    ... an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and muscle wasting (atrophy) beginning early in life. The signs and symptoms ...
    https://medlineplus.gov/.../fukuyama-congenital-muscular-dystrophy - Genetics