WebChudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and … WebChudley-McCullough syndrome Disease-Specific Communities Communities, advocacy groups, and support organizations for Chudley-McCullough syndrome. Community groups consist of other patients and families of patients with rare diseases that offer support and information on what to expect when dealing with the disease.
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WebMar 4, 2003 · Chudley-McCullough syndrome is an autosomal recessive condition characterized by profound sensorineural deafness, hydrocephalus secondary to obstruction of the foramen of Monro, and other structural abnormalities of the brain. We describe a family including two brothers and a sister with this condition. Each has profound … WebChudley–McCullough syndrome (CMS), an autosomal recessive condition first reported by Chudley et al., in 1997, comprises profound sensorineural hearing loss and specific brain abnormalities. how to invite people on twitter
NM_013296.5(GPSM2):c.742del (p.Gly249fs) AND GPSM2-Related …
WebChudley–McCullough syndrome (CMS) is an autosomal recessively inherited disorder characterized by severe-to-profound sensorineural hearing loss and specific structural brain abnormalities. This syndrome … WebJun 24, 2024 · Chudley-McCullough syndrome is an extremely rare autosomal recessive disorder characterised by early-onset sensorineural hearing loss and a distinctive combination of structural brain abnormalities, with relative preservation of psychomotor development. Epidemiology Webcmcs//chudley mccullough syndrome//chudley-mccullough syndrome//chudley-mccullough syndrome; cmcs//deafness, autosomal recessive 82, formerly//deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts//dfnb82, formerly//deafness, autosomal recessive 82//deafness, bilateral sensorineural, and … how to invite people on zoom