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Results 1 - 3 of 3 for Knobloch syndrome 1
  1. Knobloch syndrome 
    ... Retinal detachment and occipital encephalocele Genetic Testing Registry: Knobloch syndrome 1 Knobloch syndrome National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/knobloch-syndrome - Genetics
  2. COL18A1 gene 
    ... a third isoform, and possible genetic heterogeneity in Knobloch syndrome. Am J Hum Genet. 2002 Dec;71(6):1320-9. doi: 10.1086/344695. Epub 2002 Nov 1. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/col18a1 - Genetics
  3. Nearsightedness 
    ... pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen syndrome. Because common myopia is a ... syndrome, it follows the inheritance pattern of that syndrome, most commonly autosomal dominant, autosomal recessive, or X-linked. ... MYOPIA 2, AUTOSOMAL DOMINANT; MYP2 MYOPIA 1, X-LINKED; MYP1 MYOPIA 13, X-LINKED; MYP13 ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics