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Anus disorder
- ... by a malformation of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations. It is uncertain how these mutations result in the specific features of the condition.Most SALL1 gene mutations involved in this disorder lead to the production of an abnormally short ...
- ... hypotonia) and obstruction of the anal opening (imperforate anus).The mutations ... characterized by intellectual disability, behavioral problems, and physical ...
- ... particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal). The ... with a disorder called bifid nose, renal agenesis, and anorectal malformations ...