English Explanatory Dictionary

Kaufman oculocerebrofacial syndrome

English dictionary entry

Meanings

noun
  1. An extremely rare autosomal-recessive congenital disorder characterized by severe intellectual disability, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate.

Word forms

Kaufman oculocerebrofacial syndrome

Synonyms

blepharophimosis-ptosis-intellectual disability syndrome
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