Pallister-Hall Syndrome Community

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Brief Description

Pallister-Hall Syndrome [PHS] is a multiple-anomaly rare genetic disorder caused by mutations in the GLI3 gene, short arm of the 7th Chromosome.

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Synonyms

CAVE Syndrome; Cerebro-Acro-Visceral-Early Lethality [CAVE] Syndrome; Congenital Hypothalamic Hamartoblastoma [Hamartomablastoma]; 4H Syndrome; Hall-Pallister Syndrome; Hall Syndrome 2; Hamartopolydactyly Syndrome; HH; Hypopituitarism; Hypothalamic Hamartoblastoma-Hyperphalangeal Hypendocrine-Hypoplastic Anus [4H] Syndrome; Hypothalamic Hamartoblastoma-Hypopituitarism-Imperforate Anus-Postaxial Polydactyly Syndrome; Hypothalamic Hamartoblastoma Syndrome; Imperforate Anus; Microphallus-Imperforate Anus-Syndactyly-Hamartoblastoma-Abnormal Lung Lobulation-Polydactyly [MISHAP] Syndrome; MISHAP Syndrome; PAP; PAP-A; PHS; Postaxial Polydactyly and Renal-Anal-Lung-Polydactyly-Hamartoblastoma [RALPH] Syndrome; Postaxial Polydactyly Type A; PPD-IV; Preaxial Polydactyly Type IV; RALPH Syndrome, Pallister Hall Syndrome

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    tonix

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    ankehsu

    Helon_george

    ghelon

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