Cohen syndrome

A rare, autosomal recessive condition (MIM:216550) first described in the Finnish population, which is characterised by nonprogressive psychomotor retardation, motor clumsiness and microcephaly; typical facial features including high-arched eyelids, short philtrum, thick hair and low hairline; childhood hypotonia, joint hyperextensibility, retinochoroidal dystrophy and myopia above age 5; and periodic neutropenia.
Molecular pathology
Cohen syndrome is caused by a mutation in COH1 located on 8q22.

Cohen syndrome

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.

Cohen,

M. Michael, Jr., U.S. pathologist. Cohen syndrome - probable inherited autosomal recessive trait causing obesity, hypotonia, and mental deficiency.

单词	cohen syndrome
释义	Cohen syndrome Cohen syndrome A rare, autosomal recessive condition (MIM:216550) first described in the Finnish population, which is characterised by nonprogressive psychomotor retardation, motor clumsiness and microcephaly; typical facial features including high-arched eyelids, short philtrum, thick hair and low hairline; childhood hypotonia, joint hyperextensibility, retinochoroidal dystrophy and myopia above age 5; and periodic neutropenia. Molecular pathology Cohen syndrome is caused by a mutation in COH1 located on 8q22. Cohen syndrome 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. Cohen, M. Michael, Jr., U.S. pathologist. Cohen syndrome - probable inherited autosomal recessive trait causing obesity, hypotonia, and mental deficiency. See CoH See COH1
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