Hypothalamic hamartoma with polydactyly and imperforate anus.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, birth
- Gene(s) involved
- GLI3
- Alternative names & eponyms
- PHS
Etiology & mechanism
GLI3 truncating variants.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Pallister–Hall syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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