An inherited disorder affecting many parts of the body and characterized by developmental delay, intellectual disability, and weak muscle tone (HYPOTONIA). Other features of the syndrome include progressive nearsightedness.
Cohen syndrome is characterized by truncal obesity, hypotonia, mental retardation, and ocular and craniofacial abnormalities. Characteristic craniofacial features include microcephaly, small jaw, prominent incisors, small philtrum, and high-arched palate.
A rare autosomal recessive disease characterized by small head size, mental retardation, poor muscle tone, visual disturbances, joint laxity, and low white blood cell counts.