congenital cataracts, facial dysmorphism, and neuropathy

'congenital cataracts, facial dysmorphism, and neuropathy' can also refer to...


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(CCFDN) syndrome

An autosomal recessive developmental disorder that is characterized by a complex clinical phenotype involving multiple organs and systems. Abnormalities include congenital cataracts and microcorneae, hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, facial dysmorphism, and hypogonadism. The cause is mutation in the CTD phosphatase.

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