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Results 41 - 50 of 61 for Ear malformation
  1. MN1 C-terminal truncation syndrome 
    ... Individuals with MCTT syndrome can also have a malformation of the part of the brain that coordinates movement (the cerebellum ). This malformation, called atypical rhombencephalosynapsis, is characterized by tissue loss ...
    https://medlineplus.gov/.../mn1-c-terminal-truncation-syndrome - Genetics
  2. FGFR2 gene 
    ... include craniosynostosis, distinctive facial features, arm and leg malformations, and genitourinary abnormalities.The FGFR2 gene mutations that ... Hamel BC. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  3. Autosomal recessive primary microcephaly 
    ... 2, primary, autosomal recessive, with or without cortical malformations Genetic Testing Registry: Microcephaly 3, primary, autosomal recessive ... 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2 MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4 MICROCEPHALY ...
    https://medlineplus.gov/.../autosomal-recessive-primary-microcephaly - Genetics
  4. Baraitser-Winter syndrome 
    ... undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am J Med ... WB, Andria G, Winter RM. Characterization of brain malformations in the Baraitser-Winter syndrome and review of ...
    https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome - Genetics
  5. 1q21.1 microduplication 
    ... with a 1q21.1 microduplication are born with malformations of the heart, including a particular combination of ... as tetralogy of Fallot. Less commonly, other physical malformations such as the urethra opening on the underside ...
    https://medlineplus.gov/genetics/condition/1q211-microduplication - Genetics
  6. Baller-Gerold syndrome 
    ... hand and arm abnormalities are called radial ray malformations.People with Baller-Gerold syndrome may have a ...
    https://medlineplus.gov/genetics/condition/baller-gerold-syndrome - Genetics
  7. CASK-related intellectual disability 
    ... Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  8. Apert syndrome 
    ... Hamel BC. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. ...
    https://medlineplus.gov/genetics/condition/apert-syndrome - Genetics
  9. SLC26A2 gene 
    ... of the disorder, which is also characterized by malformations of the hands, feet, and knees; abnormal curvature ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  10. Cytochrome P450 oxidoreductase deficiency 
    ... 2003318. Citation on PubMed Porter FD, Herman GE. Malformation syndromes caused by disorders of cholesterol synthesis. J ...
    https://medlineplus.gov/...cytochrome-p450-oxidoreductase-deficiency - Genetics
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