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Abnormal language feature
- ... scalp hair, small head size (microcephaly), distinctive facial features, short stature, abnormal fingers, recurrent seizures (epilepsy), and moderate to severe intellectual disability with impaired language development. Almost all SMARCA2 gene mutations that cause ...
- ... aphasia spectrum disorders (described above) but lacking consistent language problems. These shared features can include recurrent seizures (epilepsy), often of a type that originates from abnormal activity in the rolandic region of the brain ( ...
- ... mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, behavioral problems, and other abnormalities affecting ...
- ... described above) and is characterized by speech and language problems, intellectual disability, and distinct facial features.SETBP1 disorder can be caused by insertions or ...
- ... of the disorder, including intellectual disability, severely delayed language skills, an unusually small head size (microcephaly), and distinctive facial features. Affected males may also have undescended testes (cryptorchidism) ...
- ... of the disorder, including intellectual disability, severely delayed language skills, an unusually small head size (microcephaly), and distinctive facial features. Affected males may also have undescended testes (cryptorchidism) ...
- ... to intellectual disability, speech problems, and other neurological features of Xia-Gibbs syndrome. Abnormal development of other body systems caused by a ...
- ... affected, although other nerves can also be involved. Abnormal growth of cranial nerves impairs the function of extraocular muscles, leading to the characteristic features of CFEOM such as restricted eye movement and ...
- ... in these brain regions leads to the major features of FTDP-17, including changes in personality and behavior, speech and language abnormalities, and problems with movement. More About This ...
- ... all of the features of Timothy syndrome. These features can include seizures, intellectual disability, autism spectrum disorder, anxiety, and walking difficulty. Individuals with this condition can also experience delayed speech, language or motor skills. Some affected individuals have heart ...
