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144 results
  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... text-role >description</text-role><html ><html:p >Coloboma is an eye abnormality that occurs before birth. Colobomas are missing ... pieces of tissue in structures that form the eye (coloboma); or underdevelopment of the nerves that carry signals ...
  2. Eye Diseases | Glaucoma | MedlinePlus 
    https://medlineplus.gov/eyediseases.html
    ... Pediatric Ophthalmology and Strabismus) Choroideremia (Foundation Fighting Blindness) Coloboma (National Eye Institute) Also in Spanish Holmes-Adie Syndrome (Genetic ...
  3. FREM1 Autosomal Recessive Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1728
    ... FRAS1 REM2 GRIP1 AR Anophthalmia/microphthalmia, cryptophthalmos, eyelid colobomas, widely spaced eyes Wedge-shaped lateral anterior hairline Bifid nasal tip / ...
  4. Coloboma of the iris 
    https://medlineplus.gov/ency/article/003318.htm
    ... American Academy of Ophthalmology website. What is a coloboma? www.aao.org/eye-health/diseases/what-is-coloboma . Accessed December 6, 2023. Selzer EB, Blain D, ...
  5. 17q12 Recurrent Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK401562
    ... FSGS, uric acid nephrolithiasis Optic nerve dysplasia, retinal coloboma, other eye malformations TSC1 TSC2 Tuberous sclerosis complex AD Multiple & ...
  6. PORCN-Related Developmental Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1543
    ... pain refractory to these interventions should consult orthopedist. Eye Eyelid colobomas: surgical repair by oculoplastic surgeon Iris coloboma: Aesthetic ...
  7. ESCO2 Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1153
    ... the ears (anotia, microtia, accessory auricles) and the eyes (coloboma of the iris, anophthalmia, microphthalmia). Internal defects commonly ...
  8. Aicardi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1381
    ... chorioretinal lacunae. Other common optic nerve findings included: Coloboma (39% of eyes) Glial proliferation (19% of eyes) Severe dysplasia (17% ... dermal hypoplasia (Goltz syndrome) XL Normal & ID Microphthalmia, coloboma Cutis ... eye findings of Aicardi syndrome TUBGCP4 MCCRP3 (OMIM 616335 ) ...
  9. RERE-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK538938
    ... behavior, and autism spectrum disorder. A variety of eye anomalies (coloboma, optic nerve anomalies, microphthalmia, and/or Peter's ... infancy Infant feeding difficulties Eye/vision problems: Structural eye defects (coloboma, optic nerve atrophy/hypoplasia, micropthalmia, and/or Peter' ...
  10. Trisomy 18 
    https://medlineplus.gov/ency/article/001661.htm
    ... split, or cleft in the iris of the eye ( coloboma ) Separation between the left and right side of ...
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