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Results 1 - 10 of 25 for Progressive microcephaly
  1. Pontocerebellar hypoplasia 
    Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  2. Nijmegen breakage syndrome 
    ... head is getting smaller as the body grows (progressive microcephaly). Individuals with Nijmegen breakage syndrome have distinctive facial ...
    https://medlineplus.gov/.../condition/nijmegen-breakage-syndrome - Genetics
  3. Mandibulofacial dysostosis with microcephaly 
    ... head is getting smaller as the body grows (progressive microcephaly). Affected individuals have developmental delay and intellectual disability that can range from mild to severe. Speech and language ...
    https://medlineplus.gov/...dibulofacial-dysostosis-with-microcephaly - Genetics
  4. CASK-related intellectual disability 
    ... head is getting smaller as the body grows (progressive microcephaly). Individuals with this condition have underdevelopment (hypoplasia) of ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  5. Phosphoglycerate dehydrogenase deficiency 
    ... head is getting smaller as the body grows (progressive microcephaly). Poor brain growth leads to an inability to ...
    https://medlineplus.gov/...phosphoglycerate-dehydrogenase-deficiency - Genetics
  6. Isolated sulfite oxidase deficiency 
    ... head is getting smaller as the body grows (progressive microcephaly). Abnormalities in facial features also become increasingly pronounced ...
    https://medlineplus.gov/.../isolated-sulfite-oxidase-deficiency - Genetics
  7. Asparagine synthetase deficiency 
    ... symptoms of the condition. ASNS deficiency ASNSD Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Disorder of asparagine metabolism Genetic ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  8. Coffin-Lowry syndrome 
    ... condition include short stature, an unusually small head (microcephaly), progressive abnormal curvature of the spine (kyphoscoliosis), and other ...
    https://medlineplus.gov/genetics/condition/coffin-lowry-syndrome - Genetics
  9. 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
  10. Microcephaly, seizures, and developmental delay 
    ... 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/...ocephaly-seizures-and-developmental-delay - Genetics
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