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Results 1 - 5 of 5 for Progressive microcephaly
  1. CSTB gene 
    ... believed to cause the signs and symptoms of progressive myoclonic epilepsy type 1, but ... severe developmental delays, abnormal movements (dyskinesia), seizures, and ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  2. PNKP gene 
    ... van de Spek P, Kremer A, Mancini GM. Progressive cerebellar atrophy and ... with microcephaly, seizures and developmental delay on enzyme activity and ...
    https://medlineplus.gov/genetics/gene/pnkp - Genetics
  3. MECP2 gene 
    ... males and is characterized by small head size (microcephaly), movement disorders, breathing problems, and seizures. Many of ... a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/mecp2 - Genetics
  4. CLPB gene 
    ... JL. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med ... Wevers RA. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  5. MT-ATP6 gene 
    ... tone (hypotonia), and an unusually small head size (microcephaly). Researchers have not determined why MT-ATP6 mutations ...
    https://medlineplus.gov/genetics/gene/mt-atp6 - Genetics