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233
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Cerebral hypoplasia
- ... that this problem with neuronal migration causes a brain abnormality called cobblestone lissencephaly, in which the surface of ... dystrophy type 1C (MDC1C), which causes muscle weakness, brain abnormalities, and intellectual disability but usually does not affect ...
- ... tone (hypotonia), developmental delays, delayed speech, seizures, and brain abnormalities. 14-3-3 epsilon 14-3-3E HEL2 ... of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse. Genet Med. 2023 Jul; ...
- ... PIK3R2 gene have been found to cause a brain abnormality called bilateral perisylvian polymicrogyria (BPP). The surface of ... unusually small. BPP is one of the major brain abnormalities associated with MPPH syndrome (described above), but mutations ...
- ... TUBB2B gene have been identified in people with brain abnormalities affecting the surface of the brain (the cortex), ... have problems with extraocular muscles (described above). The brain abnormalities typically lead to intellectual disability in affected individuals. ...
- ... that this problem with neuronal migration causes a brain abnormality called cobblestone lissencephaly, in which the surface of ... POMT2-related congenital muscular dystrophy causes muscle weakness, brain abnormalities, and intellectual disability, but usually does not affect ...
- ... that this problem with neuronal migration causes a brain abnormality called cobblestone lissencephaly, in which the surface of ... POMT1-related congenital muscular dystrophy causes muscle weakness, brain abnormalities, and intellectual disability, but usually does not affect ...
- ... that this problem with neuronal migration causes a brain abnormality called cobblestone lissencephaly, in which the surface of ... type 1D (MDC1D). This condition causes muscle weakness, brain abnormalities, and intellectual disability but does not affect the ...
- ... early development of the brain. This causes a brain abnormality called cobblestone lissencephaly, in which the surface of ... eyes, brain, and skeletal muscles. The eye and brain abnormalities seen in those with Walker-Warburg syndrome are ...
- ... rare disorder characterized by impaired development and structural brain abnormalities. This condition was previously described as a congenital ... infancy, severe to profound intellectual disability, and related brain abnormalities. Although the mechanism is unclear, researchers believe that ...
- ... growth of neurites within the brain leads to brain abnormalities that underlie intellectual disability and other neurological problems ... complex, with other brain malformations 1 (CDCBM1). The brain abnormalities associated with this condition lead to intellectual disability, ...
