Cohen syndrome (https://omim.org/entry/216550) is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).
Súvisiace produkty
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ADNFLE (AUT. DOM. NOCTURNAL FRONTAL LOBE EPILEPSY)
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SPINOCEREBRÁLNA ATAXIA – SCA
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JUVENILNÁ MYOKLONICKÁ EPILEPSIA
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NEUROFIBROMATÓZA TYP 1/2