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Hypoplasia of eyelid
- ... of BPES; both types I and II involve abnormalities of the eyelids that prevent them from fully opening. Type I ...
- ... disorder that is present at birth and causes abnormalities mainly affecting the eyelids and mouth. These mutations are thought to prevent ...
- ... This disorder is present at birth and causes abnormalities mainly affecting the eyelids and mouth, including openings on both sides 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 ...
- ... gene mutations lead to hearing problems and ovarian abnormalities in affected ... and causes the eyelids to droop (ptosis). Researchers speculate that the mutated ...
- ... missing teeth, a smooth tongue, fingernail and toenail abnormalities, ... of the eyelids.WNT10A gene mutations are also frequently associated with ...
- ... CFEOM such as restricted eye movement and droopy eyelids. It is unclear how the CFEOM-related ... in people with brain abnormalities affecting the surface of the brain (the cortex), ...
- ... is characterized by widely spaced eyes (hypertelorism), abnormal eyelids and ears, unusually small bones in the face ...
- ... BRG1-binding protein ELD/OSA1 BRIGHT DAN15 ELD (eyelid)/OSA protein ELD/OSA1 KIAA1235 MRD12 OSA2 P250R ... Dieux A, Tommerup N, Bache I. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients ...
- ... muscles that control eye movement and causes the eyelids to droop (ptosis).There are at least 67 ... depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 ...