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Results 1 - 10 of 10 for Progressive macrocephaly
  1. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Specifics ... Leukodystrophies ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease ... Lipid ...
    https://www.ninds.nih.gov/.../disorders/lipid-storage-diseases - External Health Links
  2. Megalencephalic leukoencephalopathy with subcortical cysts 
    Megalencephalic leukoencephalopathy ... the brain's white matter. White matter consists of nerve fibers covered by a fatty ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  3. Camurati-Engelmann disease 
    ... 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- ...
    https://medlineplus.gov/.../condition/camurati-engelmann-disease - Genetics
  4. Mucopolysaccharidosis type VII 
    ... 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 ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vii - Genetics
  5. 2-hydroxyglutaric aciduria 
    ... seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin ...
    https://medlineplus.gov/.../condition/2-hydroxyglutaric-aciduria - Genetics
  6. Mucopolysaccharidosis type VI 
    ... causes various skeletal abnormalities, including a large head (macrocephaly) with a buildup of fluid in the brain ( ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vi - Genetics
  7. Canavan disease 
    ... 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( ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics
  8. Aspartylglucosaminuria 
    ... growth spurt resulting in a large head size (macrocephaly).Intellectual disability and movement problems worsen in adolescence. ...
    https://medlineplus.gov/genetics/condition/aspartylglucosaminuria - Genetics
  9. CACNA1A gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  10. Mucopolysaccharidosis type III 
    ... facial features, a prominent forehead, a large head (macrocephaly), and thick hair and eyebrows. Some people with ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iii - Genetics