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Results 61 - 70 of 133 for Optic nerve hypoplasia
  1. Combined pituitary hormone deficiency 
    ... intellectual disability; a short, stiff neck; or underdeveloped optic nerves, which carry visual information from the eyes to the brain. The prevalence of combined pituitary ...
    https://medlineplus.gov/.../combined-pituitary-hormone-deficiency - Genetics
  2. Zellweger spectrum disorder 
    ... seen on x-ray. Affected individuals can have eye abnormalities, including clouding of the lenses of the eyes (cataracts) or involuntary, side-to-side movements of ...
    https://medlineplus.gov/.../condition/zellweger-spectrum-disorder - Genetics
  3. Sandhoff disease 
    ... vision and hearing loss, and intellectual disability. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Some affected ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  4. Tay-Sachs disease 
    ... vision and hearing loss, and intellectual disability. An eye abnormality called a cherry-red spot, which is identified by eye examination, is characteristic of this disorder. Children with ...
    https://medlineplus.gov/genetics/condition/tay-sachs-disease - Genetics
  5. Ataxia with oculomotor apraxia 
    ... apraxia, nearly all people with type 1 develop nerve abnormalities (neuropathy). Neuropathy impairs reflexes and leads to limb ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  6. Hystrix-like ichthyosis with deafness 
    ... disorder with similar features and the addition of eye abnormalities, many researchers categorize KID syndrome and HID as a single disorder, which they call KID/HID. It is not known why some people with this mutation have eye problems while others do not. GJB2 This condition ...
    https://medlineplus.gov/.../hystrix-like-ichthyosis-with-deafness - Genetics
  7. Charcot-Marie-Tooth disease 
    ... nerve cells, protecting them and helping to transmit nerve impulses. These abnormalities slow the transmission of nerve impulses and can affect the health of the ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  8. SOST-related sclerosing bone dysplasia 
    ... appearance of the middle of the face (midface hypoplasia), bulging eyes with shallow eye sockets (ocular proptosis), and a ... height and do not have syndactyly or nail abnormalities. Affected individuals ... nerve compression, resulting in milder neurological features. In people ...
    https://medlineplus.gov/.../sost-related-sclerosing-bone-dysplasia - Genetics
  9. Isolated Duane retraction syndrome 
    ... Duane-radial ray syndrome is characterized by this eye disorder and abnormalities of bones in the arms and hands.Researchers ... signals to several of the muscles surrounding the eyes (extraocular ... these nerves so they cannot effectively control the extraocular muscles. ...
    https://medlineplus.gov/.../isolated-duane-retraction-syndrome - Genetics
  10. RAB18 deficiency 
    ... shortage (deficiency) of normal RAB18 activity leads to eye problems, brain abnormalities, and other features of Warburg micro syndrome or ...
    https://medlineplus.gov/genetics/condition/rab18-deficiency - Genetics
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