Rare Diseases Symptoms Automatic Extraction

Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy.

[alexander disease]

Alexander disease is an autosomal dominant leukoencephalopathy characterized by developmental delay, macrocephaly, and characteristic neuroimaging abnormalities predominantly involving frontal lobes. We report a 6-year-old Indian boy with infantile-onset Alexander disease, who has an unusually mild clinical course and a de novo p.Leu359Val mutation in the glial fibrillary acidic protein gene.

Diseases presenting "macrocephaly" symptom

  • alexander disease
  • canavan disease
  • cohen syndrome
  • cowden syndrome
  • kabuki syndrome
  • monosomy 21
  • proteus syndrome
  • wolf-hirschhorn syndrome

This symptom has already been validated