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Results 1 - 10 of 14 for "Coloboma," "ocular," autosomal recessive
  1. Coloboma 
    ... Testing Registry: Congenital ocular coloboma Genetic Testing Registry: Coloboma, ocular, autosomal recessive Coloboma of iris Coloboma of optic nerve Retinochoroidal ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
  2. Microphthalmia 
    ... inheritance pattern for that condition, which may be autosomal recessive or other patterns.Often microphthalmia is not inherited, and there is only one affected individual ... Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  3. Treacher Collins syndrome 
    ... in the POLR1C gene, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in ...
    https://medlineplus.gov/genetics/condition/treacher-collins-syndrome - Genetics
  4. Nager syndrome 
    ... Nager syndrome can also be inherited in an autosomal recessive pattern, which means both copies of a gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated ...
    https://medlineplus.gov/genetics/condition/nager-syndrome - Genetics
  5. Burn-McKeown syndrome 
    ... problems. TXNL4A This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/genetics/condition/burn-mckeown-syndrome - Genetics
  6. Manitoba oculotrichoanal syndrome 
    ... function. FREM1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../manitoba-oculotrichoanal-syndrome - Genetics
  7. Miller syndrome 
    ... syndrome. DHODH This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/genetics/condition/miller-syndrome - Genetics
  8. Congenital anomalies of kidney and urinary tract 
    ... as reduced penetrance.Less commonly, CAKUT follows an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/...tal-anomalies-of-kidney-and-urinary-tract - Genetics
  9. Ophthalmo-acromelic syndrome 
    ... unknown. SMOC1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../condition/ophthalmo-acromelic-syndrome - Genetics
  10. Kaufman oculocerebrofacial syndrome 
    ... body. UBE3B This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../kaufman-oculocerebrofacial-syndrome - Genetics
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