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Kaufman oculocerebrofacial syndrome
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Medical condition
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Kaufman oculocerebrofacial syndrome, also known as Blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital disorder characterized by severe intellectual disability, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate. It was characterized in 1971; eight...

Instance of
developmental defect during embryogenesis
Rare disease
class of disease
Subclass of
syndromic intellectual disability
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
genetic syndromic intellectual disability
autosomal recessive disease
Wikidata