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Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by mental retardation, microbrachycephaly, long narrow face, upslanting palpebral fissures, eye abnormalities, highly arched palate, preauricular skin tags and small mandible.
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Genetic disorders with OMIM but no gene
Congenital disorders
More related topics
Autosomal recessive disorders
Syndromes
Rare diseases
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