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 11 for Progressive macrocephaly
  1. Megalencephalic leukoencephalopathy ... the brain's white matter. White matter consists of nerve fibers covered by a fatty ...
  2. Sandhoff Disease From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Tay-Sachs Disease/Specifics ... Tay-Sachs Disease ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Sandhoff disease ...
  3. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Gaucher Disease/Learn More ... Gaucher Disease ... Lipid Metabolism Disorders/Start Here ... Lipid Metabolism Disorders ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease
  4. ... which can lead to an abnormally large head (macrocephaly) and lower jaw (mandible), a prominent forehead (frontal ... dysplasia Diaphyseal hyperostosis Diaphyseal osteosclerosis Engelmann disease PDD Progressive diaphyseal dysplasia Genetic Testing Registry: Diaphyseal dysplasia Camurati ...
  5. ... features of MPS VII include a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), ... loss. Affected individuals may have developmental delay and progressive intellectual disability, although intelligence is unaffected in some ...
  6. ... seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin ...
  7. ... causes various skeletal abnormalities, including a large head (macrocephaly) with a buildup of fluid in the brain ( ...
  8. ... muscle tone (hypotonia), an unusually large head size (macrocephaly), and irritability. Feeding and swallowing difficulties, seizures, and ... R. Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem. J Child Neurol. 2003 Nov;18( ...
  9. ... growth spurt resulting in a large head size (macrocephaly).Intellectual disability and movement problems worsen in adolescence. ...
  10. ... deletion syndrome include an unusually large head size (macrocephaly), tall stature, intellectual disability, seizures, ataxia, and other ... JC, Baloh RW. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. Neurology. 2005 ...
previous · 1 · 2 · next