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Syndrome

Pallister-Hall Syndrome

AMW:DIS:040044

A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.

Pathology clinical
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Graph assertions

Pallister-Hall Syndrome has parent Abnormalities, Multiple
Pallister-Hall Syndrome has parent Hamartoma
Pallister-Hall Syndrome has parent Hypothalamic Neoplasms
Pallister-Hall Syndrome has parent Polydactyly

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