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Chime syndrome
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy
Pronunciation
/ʧʌɪm ˈsɪndrəʊm/
/ʧaɪm ˈsɪnˌdroʊm/
Categories
autosomal recessive disease
disease
syndrome
rare disease