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 - 10 of 13 for Spinal muscular atrophy with intellectual disability
  1. Gyrate atrophy of the choroid and retina 
    ... neurological testing. In some cases, mild to moderate intellectual disability is associated with gyrate atrophy.Gyrate atrophy may also cause disturbances in the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). In some ...
    https://medlineplus.gov/.../gyrate-atrophy-of-the-choroid-and-retina - Genetics
  2. Spastic paraplegia type 15 
    ... which consists of nerves connecting the brain and spinal cord to muscles and ... disability. In almost all affected individuals, the tissue connecting ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-15 - Genetics
  3. EXOSC3 gene 
    ... the survival of specialized nerve cells in the spinal cord called motor neurons, which play an ... and intellectual disability. EXOSC3 gene mutations cause about half of all ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  4. DYNC1H1 gene 
    ... neuronal growth, is thought to contribute to the muscle weakness and atrophy experienced by ... disability. These affected individuals often have a brain malformation ...
    https://medlineplus.gov/genetics/gene/dync1h1 - Genetics
  5. Dihydropyrimidinase deficiency 
    ... most often in people with dihydropyrimidinase deficiency are intellectual ... deterioration (atrophy) of the small, finger-like projections (villi) that ...
    https://medlineplus.gov/.../condition/dihydropyrimidinase-deficiency - Genetics
  6. Pontocerebellar hypoplasia 
    ... cord, similar to another genetic disorder known as spinal muscular atrophy. Individuals with PCH1 also have very weak muscle ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  7. VRK1 gene 
    ... R, Lee M, King MC, Levy-Lahad E. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics
  8. Chromosome 17 
    ... is abnormally smooth. This brain abnormality causes severe intellectual disability, developmental delay, seizures, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  9. Spastic paraplegia type 2 
    ... ataxia); involuntary movements of the eyes (nystagmus); mild intellectual disability; involuntary, rhythmic shaking (tremor); and degeneration (atrophy) of the optic nerves, which carry information from ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2 - Genetics
  10. Walker-Warburg syndrome 
    ... part of the brain that connects to the spinal cord (the brainstem). These changes in the structure of the brain lead to significantly delayed development and intellectual disability. Some individuals with Walker-Warburg syndrome experience seizures. ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
previous · 1 · 2 · next