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Oculocerebrofacial "syndrome," Kaufman type
- ... condition. Blepharophimosis-ptosis-intellectual disability syndrome BPIDS KOS Oculocerebrofacial syndrome, Kaufman type Genetic Testing Registry: Oculocerebrofacial syndrome, Kaufman type Oculocerebrofacial ...
- The UBE3B gene provides instructions for making a protein that plays a role in the ubiquitin-proteasome system, which is the cell machinery that breaks down ( ...
- Developmental Disabilities (National Library of Medicine)Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...