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An autosomal recessive disorder characterized by a wide phenotypic spectrum of developmental anomalies affecting the brain, heart, skeleton and enteric nervous system. Clinical features include hypothalamic hamartoma, microcephaly, atrioventricular septal defect, postaxial polydactyly, narrow chest, shortening of long bones, and aganglionosis.




Hamartoma of hypothalamus
Hypothalamic hamartomas


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