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Results 1 - 5 of 5 for Severe primary microcephaly
  1. Autosomal recessive primary microcephaly 
    Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with ...
    https://medlineplus.gov/.../autosomal-recessive-primary-microcephaly - Genetics
  2. Chromosome 14 
    ... The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum ...
    https://medlineplus.gov/genetics/chromosome/14 - Genetics
  3. Triple A syndrome 
    ... throat to the stomach. It can lead to severe feeding difficulties and low blood glucose (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of ...
    https://medlineplus.gov/genetics/condition/triple-a-syndrome - Genetics
  4. Hennekam syndrome 
    ... individuals may also have an unusually small head (microcephaly) and premature fusion of the skull bones (craniosynostosis).Individuals with Hennekam syndrome often have intellectual disability that ranges from mild to severe, although most are on the mild end of ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  5. MT-ATP6 gene 
    ... tone (hypotonia), and an unusually small head size (microcephaly). Researchers have not determined why MT-ATP6 mutations ... Santra S, Pallotti F, Girvin ME. Pathogenesis of primary defects in mitochondrial ATP synthesis. Semin Cell Dev ...
    https://medlineplus.gov/genetics/gene/mt-atp6 - Genetics