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Results 1 - 3 of 3 for Oculocerebrofacial "syndrome," Kaufman type
  1. Kaufman oculocerebrofacial syndrome 
    ... condition. Blepharophimosis-ptosis-intellectual disability syndrome BPIDS KOS Oculocerebrofacial syndrome, Kaufman type Genetic Testing Registry: Oculocerebrofacial syndrome, Kaufman type Oculocerebrofacial ...
    https://medlineplus.gov/.../kaufman-oculocerebrofacial-syndrome - Genetics
  2. UBE3B gene 
    ... gene mutations have been identified in people with Kaufman oculocerebrofacial syndrome, which is a disorder characterized by eye problems ( ... G. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet. 2014 Jul; ...
    https://medlineplus.gov/genetics/gene/ube3b - Genetics
  3. Developmental Disabilities (National Library of Medicine)  
    What are developmental disabilities? Developmental disabilities are conditions that are usually present at birth. They can affect a child's growth and ...
    https://medlineplus.gov/developmentaldisabilities.html - Health Topics