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Abnormal facial expression
- ... genes causes a blood disorder called alpha thalassemia. Abnormal expression of additional genes likely causes developmental delay, distinctive facial features, and the other signs and symptoms of ...
- ... in these individuals include recurrent seizures (epilepsy), characteristic ... expression and disrupts proper neural development. However, the specific ...
- ... This disorder is characterized by intellectual disability, specific facial ... abnormal gene expression that affects development of the brain and other ...
- ... amplification is associated with a poor disease outcome. Abnormal expression of the FGFR2 gene is also found in ...
- ... abnormalities including an unusually large head (macrocephaly) and abnormal facial features. Males who survive infancy have bone abnormalities ...
- ... DH, Li B. Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez ...
- ... pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment. Hum Mol Genet. 1994 Dec;3( ...
- ... from the neural crest, including the heart and facial features. Abnormal development of these tissues leads to the major ...
- ... cause Bohring-Opitz syndrome, a condition that causes abnormal head size and shape, distinctive facial features, joint abnormalities, intellectual disability, and other signs ...
- ... and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain and face. More About This Health Condition MedlinePlus Genetics provides ...