Total: 1 |
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PMID (PMCID) | ||
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29666339 |
MIXED_SAMPLE | Infant |
Phenotypic characterization of derivative 22 syndrome: case series and review. | ||
Saxena D, Srivastava P, Tuteja M, Mandal K, Phadke SR. J Genet. 2018;97(1):205-211. |
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Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males. |