Definition of Oculocerebrofacial. Meaning of Oculocerebrofacial. Synonyms of Oculocerebrofacial

Here you will find one or more explanations in English for the word Oculocerebrofacial. Also in the bottom left of the page several parts of wikipedia pages related to the word Oculocerebrofacial and, of course, Oculocerebrofacial synonyms and on the right images related to the word Oculocerebrofacial.

Definition of Oculocerebrofacial

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Meaning of Oculocerebrofacial from wikipedia

- Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital...
- dominant, x-linked recessive, or mitochondrial inheritance patterns. Oculocerebrofacial syndrome is a very rare autosomal recessive type of BIDS which is...
- Inactivating mutations in UBE3B gene have been linked to Kaufman oculocerebrofacial syndrome (KOS), a severe developmental disorder. Most mutations are...
- Kathisophobia Katsantoni–Papadakou–Lagoyanni syndrome Katz syndrome Kaufman oculocerebrofacial syndrome Kawasaki syndrome Kearns–Sayre syndrome Keloids Kennedy disease...
- Kartagener's syndrome Kasabach–Merritt syndrome Katz syndrome Kaufman oculocerebrofacial syndrome Kearns–Sayre syndrome Keppen–Lubinsky syndrome...