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Results 1 - 5 of 5 for Isolated microphthalmia 5
  1. ... autosomal recessive, or X-linked. Congenital ocular coloboma Microphthalmia, isolated, with coloboma Ocular coloboma Uveoretinal coloboma Genetic Testing ...
  2. ... Genetic Testing Registry: Anophthalmia Genetic Testing Registry: Microphthalmia Isolated microphthalmia-anophthalmia-coloboma National Organization for Rare Disorders (NORD) ...
  3. ... with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb;49(2):238- ...
  4. ... disorder in their family. Holoprosencephaly sequence Isolated holoprosencephaly ... Dubourg C, Bendavid C, Pasquier L, ...
  5. ... Troulis MJ, Monroy AA, Eavey RD, Kaban LB. Isolated microtia as a marker for unsuspected hemifacial microsomia. ...