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Clinical features of the patient
| 1st finger long, 5th finger short |
| Hypertelorism |
| Inverse epicanthus |
| Blepharophimosis |
| Arched, laterally sparse eyebrows |
| Small teeth |
| Long toes, 4th toe overlapping 3rd toe |
| Atrial septal defect |
| Developmental delay |
| Feeding problems |
| Shortened corpus callosum and hypomyelination on brain MRI |
| Chronic otitis media and adenoid vegetations |
| Hypermetropia |
