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PedAM

Pediatric Disease Annotations & Medicines




Disease anus, imperforate
Phenotype C0342418|hypothalamic hamartoma
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PubMedID- 26566416 Mutations have also been identified in the gli3 gene in five patients with ofds and median anomalies including hypothalamic hamartoma/mass, agenesis of corpus callosum, imperforate anus and/or atrial septal defect [15].

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