Results 51 -
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124
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Abnormality of the eye
- ... head (the anterior fontanelle) in infancy, widely spaced eyes (hypertelorism), and dental abnormalities. Like affected individuals with NIPBL gene variants, those ...
- ... syndrome. This disorder is characterized by particular brain abnormalities, weak muscle tone (hypotonia), delayed development, unusual eye movements, and breathing problems. The OFD1 mutations responsible ...
- ... Opitz G/BBB syndrome. This condition causes several abnormalities along the midline of the body, including widely spaced eyes (ocular hypertelorism), difficulty breathing or swallowing, brain malformations, ...
- ... 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 ...
- ... Saldino syndrome, a disorder characterized by kidney disease, eye problems, and skeletal abnormalities. Mutations in the IFT140 gene that cause Mainzer- ...
- ... rigid joints (arthrogryposis). Some affected individuals also have abnormalities of the heart, genitals, roof of the mouth, or the eyes.While other genes can be included in the ...
- ... one of the structures that make up the eye. The mutations that cause this abnormality occur in one copy of the PAX6 gene in each cell. Most of these mutations change single amino acids in the PAX6 protein. These ... which describes eyes that are smaller than usual. These genetic changes ...
- ... syndrome, a rare condition characterized by certain brain abnormalities, extra fingers and toes (polydactyly), and distinctive facial features, including widely spaced eyes (hypertelorism) and a prominent forehead. These signs and ...
- ... form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. Individuals with this form also have severe abnormalities ...
- ... form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. Variants in the PRDX1 gene cause epi-cblC ...
