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6
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"Microcephaly," cortical "malformations," mental retardation
- ... In people with ILS, the cells of the cerebral cortex are disorganized, and the ... delayed development, and recurrent seizures (epilepsy) in individuals ...
- ... MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2 MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4 MICROCEPHALY 3, PRIMARY, ...
- ... speech problems, anxiety, and an unusually small head (microcephaly). Other ... intellectual disability syndrome.DYRK1A gene mutations result in loss of ...
- ... usually have normal intelligence, although some have mild intellectual disability. ... delays, recurrent infections, blood vessel abnormalities, stomach ...
- ... The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J ...
- ... CFEOM3 can include additional neurological problems, such as intellectual disability; difficulty with social skills; a smaller-than-normal head size (microcephaly); muscle weakness in the face; nonfunctioning vocal cords; ...