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Developmental delay seizures with or without movement abnormalities
- ... are prone to fracture (osteoporosis) or other skeletal abnormalities. Some ... and problems with movement. They can also cause and a blood disorder ...
- ... include weak muscle tone (hypotonia), abnormal involuntary eye movements (nystagmus), developmental delays, and, rarely, seizures. Early signs of liver disease may include an ...
- ... the brain (corpus callosum). In XLAG, the brain abnormalities can cause ... and recurrent seizures (epilepsy). Most children with XLAG do not survive ...
- ... is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms.Children with desmosterolosis have delayed speech and motor skills (such as ... abnormalities in desmosterolosis include malformation of the tissue that ...
- ... syndrome is a condition characterized by intellectual disability, developmental delay, distinctive facial features, and brain abnormalities.Most people with MCTT syndrome have mild to ...
- ... novo variants in CUL3 are associated with global developmental delays with or without infantile spasms. J Hum Genet. 2020 Sep;65( ...
- ... conditions. Individuals with subcortical band heterotopia typically have developmental delays, which can range from mild to severe. Additional signs and symptoms can include intellectual disabilities and seizures that may be drug-resistant. Some variants in ...