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Developmental delay with or without epilepsy
- ... syndrome is a similar combination but with milder developmental delay and without epilepsy.A small number of individuals with permanent neonatal ...
- ... novo variants in CUL3 are associated with global developmental delays with or without infantile spasms. J Hum Genet. 2020 Sep;65( ...
- ... Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 ...
- ... above. Individuals with the juvenile form typically have epilepsy as well as mild developmental delay and intellectual disability. Only one case of the ...
- ... ASRAS Cardiac anomalies-developmental delay-facial dysmorphism syndrome Developmental delay-facial dysmorphism syndrome due to MED13L deficiency Intellectual disability and distinctive facial features with or without cardiac defects MED13L haploinsufficiency syndrome MED13L-related intellectual ...
- ... brain abnormalities can cause severe intellectual disability and ... recurrent seizures (epilepsy). Most children with XLAG do not survive past ...
- ... childhood.Females with HSD10 disease may have developmental delay, learning ... as epilepsy, movement problems, and hearing loss. Affected females appear ...
- ... this form of GLUT1 deficiency syndrome may have developmental delay or ... during periods without food (fasting).About 10 percent of individuals with ...
- ... in people with a 16p12.2 microdeletion include developmental delay, delayed ... (epilepsy), and psychiatric and behavioral problems.Less common features ...
- ... the inner ear (sensorineural hearing loss), recurrent seizures (epilepsy), and problems ... delay (SIFD) and a milder disorder called retinitis pigmentosa ...
