Kaufman oculocerebrofacial syndrome

Kaufman oculocerebrofacial syndrome

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OMIM = 244450
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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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External Links

*RareDiseases|3084|Kaufman oculocerebrofacial syndrome


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