Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 13 for Abnormality of globe location
  1. NDP gene 
    ... seizures, behavioral problems, and delayed development. The specific ... addition to the eyes. Variants that delete or change single amino acids ...
    https://medlineplus.gov/genetics/gene/ndp - Genetics
  2. RERE gene 
    ... the normal development of tissues in the brain, eyes, heart, and other organs. ... may be related to the location and type of mutation in the RERE gene. ...
    https://medlineplus.gov/genetics/gene/rere - Genetics
  3. B3GLCT gene 
    ... B3GLCT gene. Peters plus syndrome is characterized by eye abnormalities, short stature, intellectual disability, and distinctive facial features. ...
    https://medlineplus.gov/genetics/gene/b3glct - Genetics
  4. FBN1 gene 
    ... Abnormal microfibrils weaken connective tissue, which causes the eye, heart, and skeletal abnormalities associated with Weill-Marchesani syndrome. More About This ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  5. PITX2 gene 
    ... sensitive to changes in PITX2 protein activity, and abnormalities of the anterior segment of the eye are the predominant features of Axenfeld-Rieger syndrome. ...
    https://medlineplus.gov/genetics/gene/pitx2 - Genetics
  6. SPECC1L gene 
    ... Opitz G/BBB syndrome. This condition causes several abnormalities along the midline of the body, including widely spaced eyes (ocular hypertelorism), throat malformations that can cause difficulty ...
    https://medlineplus.gov/genetics/gene/specc1l - Genetics
  7. TUBB2B gene 
    ... should, which prevents axons from reaching their proper location. Nerves in the head and face (cranial nerves) that control muscles that surround the eyes (extraocular muscles) are particularly affected. Abnormal development of ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  8. GRIP1 gene 
    ... affects development before birth and is characterized by eyes that are completely covered by skin (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the kidneys and other organs and tissues. ...
    https://medlineplus.gov/genetics/gene/grip1 - Genetics
  9. TUBB3 gene 
    ... the characteristic features of CFEOM such as restricted eye movement and droopy eyelids. Researchers suspect that abnormal growth of neurites within the brain leads to brain abnormalities that underlie intellectual disability and other neurological problems ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  10. SLC4A1 gene 
    ... ensure AE1 gets moved (trafficked) to the correct location of the cell. Glycophorin A is ... abnormalities, such as hereditary spherocytosis, hereditary stomatocytosis, or Southeast ...
    https://medlineplus.gov/genetics/gene/slc4a1 - Genetics
previous · 1 · 2 · next