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Multiple congenital anomalies
- ... building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. In most people, the ... gene can cause a very rare condition called congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) syndrome. Individuals with this condition have severe ...
- ... KERATITIS, HEREDITARY OPTIC NERVE HYPOPLASIA, BILATERAL CATARACT 9, MULTIPLE TYPES; CTRCT9 PAIRED BOX GENE 6; PAX6 NCBI ...