Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 24-08-2020

Symbol	PHLS
Location	7q32.1
Corresponding gene	SMO
Main clinical features	developmental anomalies affecting the brain (hypothalamic hamartoma and microcephaly), heart (atrioventricular septal defect), skeleton (postaxial polydactyly, narrow chest, and shortening of long bones), and enteric nervous system (aganglionosis); also gelastic epilepsy skeletal development including postaxial polydactyly is a consistent feature
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
	digestive tract/gastrointestinal
	neurology
	osteo-articular
Type	disease

Remark(s)

. bi-allelic loss-of-function SMO variations leading to severely altered HH-signal transduction and causing pleiotropic developmental anomalies (PMID: 32413283))