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Results 1 - 10 of 23 for robin syndrome
  1. Isolated Pierre Robin sequence 
    ... associated with. Glossoptosis, micrognathia, and cleft palate Pierre Robin syndrome Pierre-Robin syndrome Robin sequence Robin syndrome Genetic Testing Registry: Isolated ...
    https://medlineplus.gov/.../condition/isolated-pierre-robin-sequence - Genetics
  2. Weissenbacher-Zweymüller syndrome 
    ... Heterozygous otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia, autosomal dominant Pierre Robin syndrome with fetal chondrodysplasia WZS Genetic Testing Registry: Otospondylomegaepiphyseal ...
    https://medlineplus.gov/.../weissenbacher-zweymuller-syndrome - Genetics
  3. Stickler syndrome 
    ... sequence is also common in people with Stickler syndrome. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal ... syndrome have severe nearsightedness (high myopia), which means they ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  4. Coffin-Lowry syndrome 
    ... on PubMed Rojnueangnit K, Jones JR, Basehore MJ, Robin NH. Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes ...
    https://medlineplus.gov/genetics/condition/coffin-lowry-syndrome - Genetics
  5. Opitz G/BBB syndrome 
    ... doi: 10.1038/ng1197-285. Citation on PubMed Robin NH, Opitz JM, Muenke M. Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and ...
    https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome - Genetics
  6. Blepharocheilodontic syndrome 
    ... on PubMed Weaver KN, Rutledge KD, Grant JH, Robin NH. Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. Am J Med Genet A. 2010 Feb;152A( ...
    https://medlineplus.gov/.../condition/blepharocheilodontic-syndrome - Genetics
  7. Chromosome 5 
    ... or Free article on PubMed Central Schafer IA, Robin NH, Posch JJ, Clark BA, Izumo S, Schwartz S. Distal 5q deletion syndrome: phenotypic correlations. Am J Med Genet. 2001 Sep ...
    https://medlineplus.gov/genetics/chromosome/5 - Genetics
  8. VPS13B gene 
    ... Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Traskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML. Cohen syndrome in the Ohio Amish. Am J Med Genet ...
    https://medlineplus.gov/genetics/gene/vps13b - Genetics
  9. 6q24-related transient neonatal diabetes mellitus 
    ... Goodship J, Hahnemann JM, Kant SG, Njolstad PR, Robin NH, Robinson DO, Siebert R, Shield JP, White HE, Temple IK. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet. ...
    https://medlineplus.gov/...ated-transient-neonatal-diabetes-mellitus - Genetics
  10. Chromosome 21 
    ... Rossier J, Personnaz L, Creau N, Blehaut H, Robin S, Delabar JM, Potier MC. Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/chromosome/21 - Genetics
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