Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive...

Kasabach–Merritt syndrome Katz syndrome Kaufman oculocerebrofacial syndrome Kearns–Sayre syndrome Keppen–Lubinsky syndrome Keratitis–ichthyosis–deafness syndrome Keratosis...

syndrome Kaufman oculocerebrofacial syndrome Kawasaki syndrome Kearns–Sayre syndrome Keloids Kennedy disease Kennerknecht–Sorgo–Oberhoffer syndrome Kennerknecht–Vogel...

x-linked recessive, or mitochondrial inheritance patterns. Oculocerebrofacial syndrome is a very rare autosomal recessive type of BIDS which is characterized...

Inactivating mutations in UBE3B gene have been linked to Kaufman oculocerebrofacial syndrome (KOS), a severe developmental disorder. Most mutations are...