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Searched for "Microcephaly".

131 results found on Genetics Home Reference.

Showing results 1 to 20.
  1. autosomal recessive primary microcephaly condition summary
    Found in name or synonym: microcephaly primary hereditary
    Related genes:
  2. Amish lethal microcephaly condition summary
    Found in name or synonym: microcephaly, Amish type
    Related genes:
  3. microcephaly-capillary malformation syndrome condition summary
    Found: Microcephaly-capillary malformation syndrome...
    Related genes:
  4. Feingold syndrome condition summary
    Found in name or synonym: microcephaly-mesobrachyphalangy-tracheoesophageal...
    Related genes:
  5. Nijmegen breakage syndrome condition summary
    Found in name or synonym: microcephaly, normal intelligence and immunodeficiency
    Related genes:
  6. Mowat-Wilson syndrome condition summary
    Found in name or synonym: Microcephaly, Mental Retardation, and Distinct...
    Related genes:
  7. microcephalic osteodysplastic primordial dwarfism type II condition summary
    Found: ...an unusually small head size (microcephaly). The growth problems in MOPDII...
    Related genes:
  8. microcephaly definition
  9. pontocerebellar hypoplasia condition summary
    Found: ...a small head size (microcephaly) that becomes more pronounced as...
    Related genes:
  10. Cockayne syndrome condition summary
    Found: ...abnormally small head size (microcephaly), and impaired development of the...
    Related genes:
  11. STAMBP gene summary
    Official name: STAM binding protein
    Found: ...been identified in people with microcephaly-capillary malformation syndrome,...
  12. CASK-related intellectual disability condition summary
    Found: ...that has two main forms: microcephaly with pontine and cerebellar hypoplasia...
    Related genes:
  13. SLC25A19 gene summary
    Official name: solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
    Found: ...individuals with Amish lethal microcephaly have a mutation in which the protein...
  14. ASPM gene summary
    Official name: asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
    Found: ...of autosomal recessive primary microcephaly (often shortened to MCPH, which...
  15. Emanuel syndrome condition summary
    Found: ...an unusually small head (microcephaly), distinctive facial features,...
  16. Cornelia de Lange syndrome condition summary
    Found: ...an unusually small head (microcephaly), hearing loss, short stature,...
    Related genes:
  17. Meier-Gorlin syndrome condition summary
    Found: ...an abnormally small head (microcephaly). Despite a small head size, most...
    Related genes:
  18. Roberts syndrome condition summary
    Found: ...may have a small head size (microcephaly), and in severe cases affected...
    Related genes:
  19. 1q21.1 microdeletion condition summary
    Found: ...an unusually small head (microcephaly), short stature, and eye problems...
    Related:
  20. Christianson syndrome condition summary
    Found: ...include a small head size (microcephaly); a long, narrow face with prominent...
    Related genes:
 
Published: April 7, 2014