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Results 51 - 60 of 61 for Ear malformation
  1. Fryns syndrome 
    ... AE, Pober BR, Mullen MP, Slavotinek AM. Cardiovascular malformations in Fryns syndrome: is there a pathogenic role ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
  2. OTX2 gene 
    ... IM. Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet. 2005 Jun;76(6): ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  3. PITX1 gene 
    ... in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. Eur J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics
  4. Renpenning syndrome 
    ... of the mouth (cleft palate), heart abnormalities, or malformations of the anus.Certain combinations of the features ...
    https://medlineplus.gov/genetics/condition/renpenning-syndrome - Genetics
  5. Cardiofaciocutaneous syndrome 
    ... problems most commonly associated with this condition include malformations of one of the heart valves that impairs ... eyelids (ptosis), a small chin, and low-set ears. Overall, the face is broad and long, and ...
    https://medlineplus.gov/.../condition/cardiofaciocutaneous-syndrome - Genetics
  6. Down syndrome 
    ... PubMed Shapiro BL. Down syndrome and associated congenital malformations. J Neural Transm Suppl. 2003;(67):207-14. ...
    https://medlineplus.gov/genetics/condition/down-syndrome - Genetics
  7. ALG12-congenital disorder of glycosylation 
    ... with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genet A. ...
    https://medlineplus.gov/...lg12-congenital-disorder-of-glycosylation - Genetics
  8. Cerebro-facio-thoracic dysplasia 
    ... side curvature of the spine (scoliosis) due to malformation of the vertebrae; some vertebrae may also be ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
  9. 22q13.3 deletion syndrome 
    ... Hoyme HE. 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. ...
    https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome - Genetics
  10. IMAGe syndrome 
    ... are metaphyseal dysplasia and epiphyseal dysplasia; these are malformations of the ends of long bones in the ... features, such as a prominent forehead, low-set ears, and a short nose with a flat nasal ...
    https://medlineplus.gov/genetics/condition/image-syndrome - Genetics
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