Pallister-Hall Syndrome


CAVE Complex

CAVE Complices

Cerebroacrovisceral Early Lethality Complex

Complex, CAVE

Complices, CAVE

Hall Pallister Syndrome

Hall-Pallister Syndrome

Hamartoblastoma Syndrome, Hypothalamic

Hamartoblastoma Syndromes, Hypothalamic

Hypothalamic Hamartoblastoma Syndrome

Hypothalamic Hamartoblastoma Syndromes

Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly

Pallister Hall Syndrome

Syndrome, Hall-Pallister

Syndrome, Hypothalamic Hamartoblastoma

Syndrome, Pallister-Hall

Syndromes, Hypothalamic Hamartoblastoma

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.